Headache: Differential Diagnosis of Headache
Headache: Differential Diagnosis of Headache
Headache: Differential Diagnosis of Headache
1
Primary Headache Syndromes
Migraine Cluster Tension
Sex
Female > male Male > female Female > male
predilection
Family
Often present No No
history
Onset Variable During sleep Under stress
Band-like pattern around
Location Often unilateral Behind one eye
the head (bilateral)
Excruciating, sharp &
Character Pulsatile & throbbing Dull, tight & persistent
steady
Duration 4-72 hours 15-90 minutes 30 minutes to 7 days
Sweating, facial
Associated flushing, nasal Muscle tenderness in the
Auras, photophobia, phonophobia & nausea
symptoms congestion, lacrimation head, neck or shoulders
& pupillary changes
Acute attacks
NSAIDs or acetaminophen
Dihydroergotamine (DHE) —5-HT1
receptor agonist
o Contraindications—CAD,
pregnancy, TIAs, PAD, sepsis
Sumatriptan—a more selective 5-HT1 Attempt to find the
receptor agonist
o Contraindications—CAD, Acute attacks causal factor(s).
pregnancy, uncontrolled HTN, Inhalation of 100% Evaluate the patient for
basilar artery migraine, hemiplegic oxygen &/or possible depression or
Treatment migraine, use of MAOI, SSRI, or Sumatriptan anxiety. Stress
lithium reduction is important
Prophylaxis
Prophylaxis NSAIDs,
Verapamil
First-line agents include acetaminophen, and
o TCAs (amitriptyline) and aspirin
o Propranolol (β-blocker).
Second-line agents include
o Verapamil (CCB),
o Valproic acid (anticonvulsant), and
o Methysergide
2
Key History
HEADACHE
LIQ ORAAA
Location
Would you show me exactly where you feel the headache?
What brings the headache on?
Intensity
Is it constant or does it come & go?
On a scale of 1-10, with 10 being the worst pain you have ever felt, how would you rate your pain?
Quality
What is the headache like?
Would you describe it for me?
What is the character of the headache? For e.g. is it sharp, dull, pulsating, pounding, or pressure like?
Do you have headache at certain time of the day? / does it disturb sleep?
Do your headache wake you up at night?
Onset/Duration
When did your headache start?
How long does it last?
How often do you get them?
Radiation
Associated Sympt.
Tell me what happens before/during/after your headache?
Do you notice any change in your vision before/during or after the headache?
Do you notice any numbness or weakness before/during or after the headache?
Do you feel nauseated? Do you vomit?
Do you notice any fever or stiff neck with your headache?
Aggregating (e.g. stress, fatigue, menses, exercise, certain foods, alcohol)
Does anything make the headache worse?
Alleviating (e.g. rest, medications)
Does anything make the headache better?
Have you had similar headache before?
Family History
Does anyone of your family has similar headache?
History of trauma
Have you ever had your head injured?
3
Workup
MRI-brain
CT-head
CT -head without contrast for subarachnoid hemorrhage
CT -angiography
Digital subtraction angiography (DSA)
CBC
ESR/ CRP for temporal arteritis
Temporal artery biopsy for temporal arteritis
Doppler U/S-carotid for Carotid artery dissection
XR-sinus/ CT-sinus for acute sinusitis
Electrolytes
LP-CSF analysis
LP-opening pressure and CSF analysis for pseudomotor cerebri
PT/PTT/INR for intracranial venous thrombosis
LP-CSF analysis (cell count, protein, glucose, Gram stain, PCR for specific pathogens, culture) for meningitis
Blood culture for meningitis
Urine hCG for pseudomotor cerebri
Dilated fundoscopy examination for pseudomotor cerebri
Visual field testing for pseudomotor cerebri
4
CONFUSION/MEMORY LOSS
Causes of Dementia
Potentially Reversible Causes of Dementia Irreversible Causes of Dementia
• Hypothyroidism • Alzheimer disease
• Neurosyphilis • Parkinson, Huntington
• Vitamin B12/folate deficiency/thiamine deficiency • Multi-infarct dementia
• Medications • Dementia with Lewy bodies, Pick disease
• Normal pressure hydrocephalus • Unresectable brain mass
• Depression • HIV dementia
• Subdural hematoma • Korsakoff syndrome
• Progressive multifocal leukoencephalopathy
• Creutzfeldt–Jakob disease
5
Clinical features of Alzheimer's disease
• Anterograde memory loss (immediate recall affected, distant memories preserved)
Early • Visuospatial deficits (e.g. lost in own neighborhood)
findings • Language difficulties (e.g. difficulty finding words)
• Cognitive impairment with progressive decline
• Neuropsychiatric (e.g. hallucinations, wandering)
• Dyspraxia (e.g. difficulty performing learned motor tasks)
Late
• Lack of insight regarding deficits
findings
• Noncognitive neurologic deficits (e.g. pyramidal & extrapyramidal motor, myoclonus, seizures)
• Urinary incontinence
Creutzfeldt-Jakob disease
Probable diagnosis:
• Rapidly progressive dementia
• 2 out of 4 clinical features:
o Myoclonus
o Akinetic mutism
o Cerebellar or visual disturbance
o Pyramidal/extrapyramidal dysfunction (hypokinesia)
• Periodic sharp wave complexes on EEG
&/OR
• Positive 14-3-3 CSF assay
Definitive diagnosis includes above features in combination
with
• Brain biopsy findings (gold standard)
OR
• Demonstrated PRNP gene mutations
6
Subdural hematoma
Pathogenesis Rupture of bridging veins (head trauma)
• Elderly & alcoholics (cerebral atrophy, ↑ fall risk)
Risk factors • Infants (thin-walled vessels)
• Anticoagulant use
• Acute: Gradual onset 1-2 days after injury
o Impaired consciousness (eg, coma), confusion
Clinical o Headache, nausea, & vomiting ( ↑ intracranial pressure)
features • Chronic: Insidious onset weeks after injury
o Headache, somnolence, confusion, lightheadedness
o Focal neurologic deficits
Diagnosis Head CT: Crescent shaped hyperdensity (acute) or hypodensity (chronic) crossing suture lines
• Reverse/discontinue anticoagulants
Treatment
• Surgical evacuation of symptomatic or large bleeds
7
Huntington's disease
Pathogenesis Autosomal dominant neurodegenerative disorder.
Age of onset Patients typically present between 30-50 years with chorea and/or behavioral disturbance.
Chorea is characterized by sudden, jerky and irregular movements of the extremities (e.g. facial
grimacing, ataxia, dystonia, tongue protrusion, writhing movements of extremities).
Clinical
Impaired judgment, executive function, awareness and attention occur at an early stage.
features
Memory impairment is a late finding.
Depression, irritability and social withdrawal are also common.
Brain imaging:
Diagnosis o Atrophy of the caudate nucleus is a characteristic feature.
o Enlargement of lateral ventricles.
Wernicke's encephalopathy
Pathogenesis Thiamine (B1) deficiency secondary to long-term alcohol abuse
1. Encephalopathy (altered mental status)
Diagnostic
2. Oculomotor dysfunction (nystagmus and conjugate gaze palsy) and
triad
3. Gait ataxia.
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Delirium
Delirium (waxing and waning alteration in consciousness) is an acute confusional state consistent with reduced or
fluctuating level of consciousness and the inability to sustain attention.
Advanced age and dementia are also important risk factors.
A workup for the cause of delirium (review of medication list, blood work, urinalysis, possible imaging) is needed
(Table).
If an infection is identified, treatment should be initiated as soon as possible.
Causes of delirium
• Dementia
Predisposin • Parkinson's disease
g • Prior stroke
risk factors • Advanced age
• Sensory impairment
9
Key History
Must include history from family members/ caregivers when available.
Detailed time course of cognitive deficits (acute vs chronic/gradual onset);
Associated symptoms (constitutional, incontinence, ataxia, hypothyroid symptoms, depression);
Screen for delirium (waxing/waning level of alertness);
Falls, medications (and recent medication changes);
History of stroke or other atherosclerotic vascular disease, syphilis, HIV risk factors, alcohol use, or vitamin B12
deficiency;
Family history of Alzheimer disease or other neurologic disorders.
Dementia
Tell me about your day yesterday.
Do you need any help bathing/getting dressed/feeding yourself?
Do you need any help going to the toilet?
Do you need any help transferring from your bed to the chair?
Do you need any help taking your medications/using the telephone/shopping/preparing food/cleaning your
house/doing laundry/getting from place to place/managing money?
Do you ever have accidents with your urine or bowel movements?
Do you ever not make it to the toilet on time?
Key Physical Exam
Vital signs;
Complete neurologic exam, including mini-mental status exam and gait;
General physical exam, including HEENT, heart, lungs, abdomen, and extremities.
Gait disorders
Type of gait Description Associated signs Causes
Dysdiadochokinesia, Cerebellar degeneration
Ataxic: Dysmetria, Stroke,
Cerebellar
Staggering wide-based Nystagmus, Drug/alcohol intoxication
Romberg sign Vitamin B12 deficiency
10
Standardized Mini-Mental State Examination
(Orientation, Memory, & Concentration)
I. Introduce yourself to the patient:
"Hi; I am Dr. Murad."
"How are you doing today?"
II. Instruct the patient:
"I would like to ask you some questions and give you some problems to solve to test your orientation,
memory, & concentration; will that be O.K.?"
III. Start the test:
Orientation:
1. "What is your name?"
2. "What is your age?"
3. "Which hand do you normally write with?"
Time:
4. "What year is this?"
5. "What season of the year is this?"
6. "What is the date today?"
7. "What day of the week is this?"
8. "What month is this?"
Place:
9. "Can you tell me what country we are in?"
10. "What city we are in?"
11. "What is the name of this building?"
12. "What floor of the building are we on?"
Persons:
13. "Who am I?"
14. "What is the name of the president of United State of America?"
Memory:
15. "I am going to name 3 objects; after I have said them, I want you to repeat them back to me
immediately and after 30 seconds?" (Apple, Table, Penny)
16. "Are you married?"
17. "When did you get married?"
18. "What were the 3 objects I asked you to remember?"
Concentration:
19. "Now, I am going to give you a word and ask you to spell it forward & backward?"
20. "I want you to take 7 away from 100 & tell me what number you get; then keep taking 7 away until I tell
you to stop." (100, 93, 86, 79, 72, 65)
21. "I would like you to repeat a phrase after me?" (No ifs, ands, or buts)
22. Show the patient your pen and ask: "What is this?"
Commands:
23. "Read the words on this page & do what it says?" (Close your eyes)
24. "Take this paper in your right hand, fold the paper one with hands, & put the paper down on the table"
25. Give the patient your pen and say: "Take this"; "write any complete sentence on that piece of paper for
me?"
26. Show the patient a draw on a paper and say: "here is a drawing; please copy the drawing on the same
piece of paper?"
Judgment:
27. "What would you do if you saw a fire coming out of a paper basket?"
IV. Thank the patient:
"Thank you, you did well"
11
Workup
CBC
Glucose
Electrolytes, calcium
Serum B12
TSH
VDRL/RPR
MRI-brain
CT-head
LP-CSF analysis
LP-opening pressure and CSF analysis for Normal pressure hydrocephalus
EEG
Brain biopsy for Creutzfeldt·Jakob disease
ECG
Echocardiography
Doppler U/S-carotid
Urine toxicology
Dementia
Normal aging
(major cognitive disorder)
Can provide details about incidents of
Cannot remember specific instances of forgetfulness
forgetfulness
Family is more concerned than patient
Memory loss Patient is concerned about memory loss
Has notable decline in memory for recent important
Recent memory for important events &
events & conversations
conversations is intact
Word-finding Occasional (expressive aphasia) Frequent, with substitutions
difficulty No receptive aphasia Some receptive aphasia
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LOSS OF VISION
Differential
Retinal artery occlusion; patient has a history of atrial fibrillation. There is no eye pain, discharge, redness, or
photophobia.
Retinal vein occlusion
Acute angle-closure glaucoma
Retinal detachment
Temporal arteritis (giant cell arteritis)
Optic neuritis (acute vision loss, pain, afferent pupillary defect) most commonly occurs in women age <50 and is
often an initial presentation of multiple sclerosis
Key History
Acute versus chronic, progression, ability to see light;
Associated symptoms (eye pain, discharge, itching, tearing, photophobia, redness, headache, weakness, numbness,
floaters, sparks);
History of cardiac, rheumatic, thrombotic, autoimmune, or neurologic disorders;
Jaw claudication, medications, trauma.
Key Physical Exam
Vital signs,
HEENT, with Funduscopic examination,
Neurologic, and cardiovascular exams.
13
Clinical features of multiple sclerosis
• Onset at age 15-50
• Optic neuritis
• Internuclear ophthalmoplegia
• Lhermitte sign:
Uncomfortable "electrical" sensation that runs through the back and into the limbs.
Features The sensation can feel like it goes up or down the spine.
suggestin In many patients, it is elicited by bending the head forward.
g
It can also be evoked when a practitioner pounds ( ) َيد ُُّقon the posterior cervical spine while the
multiple
sclerosis neck is flexed; this is caused by involvement of the posterior columns.
• Uhthoff phenomenon (heat sensitivity "i.e. worsening of neurologic symptoms in multiple sclerosis
(MS) when the body gets overheated from hot weather, exercise, fever, or saunas and hot tubs ")
• Fatigue
• Sensory symptoms (numbness & paresthesia)
• Motor symptoms (paraparesis & spasticity)
• Bowel/bladder dysfunction
• Relapsing-remitting (majority)
Disease • Primary progressive
pattern • Secondary progressive
• Progressive relapsing
• T2 MRI lesions disseminated in time & space (periventricular, juxtacortical, infratentorial, or spinal cord)
Diagnosis
• Oligoclonal lgG bands on cerebrospinal fluid analysis
14
DEPRESSED MOOD
Differential
Normal bereavement
Major depressive disorder
Persistent depressive disorder (dysthymia)
Cyclothymic disorder
Bipolar I disorder
Bipolar II disorder
Adjustment disorder with depressed mood
Schizoaffective disorder
Substance-induced mood disorder
Depressive disorder not otherwise specified
SIGEMCAPS = Sleep disturbance; loss of Interest (anhedonia); excessive Guilt; low Energy; low Mood;
impaired Concentration; Appetite disturbance; Psychomotor agitation/retardation; and Suicidal ideation.
Low mood or anhedonia must be present Symptoms revolve around the deceased ()المفقود
Suicidality related to hopelessness & worthlessness Sad feelings are more specific to deceased
Thoughts of dying involve joining the deceased
Intensity decreases over time (weeks to months)
15
Bipolar & Related Disorders
Manic episode Hypomanic episode
• Symptoms more severe • Symptoms less severe
• 1 week unless hospitalized • ≥4 consecutive days
• Unequivocal, observable change in functioning from
• Marked impairment in social or occupational patient's baseline
functioning or hospitalization necessary • Symptoms not severe enough to cause marked impairment
or necessitate hospitalization
• May have psychotic features; makes episode
• No psychotic features
manic by definition
The diagnosis of hypomanic and manic episodes requires elevated/irritable mood and increased energy plus 3 of the
following symptoms (or 4 if mood is irritable).
These can be remembered with the mnemonic DIGFAST:
• D - Distractibility
• l - Impulsivity (high-risk behaviors [e.g. spending, sexual])
• G - Grandiosity
• F - Flight of ideas/racing thoughts
• A - Activity (increased goal-directed activity/psychomotor agitation)
• S- Sleep (decreased need)
• T - Talkativeness/pressured speech
Bipolar I
• Manic episode(s)
• Depressive episodes common, but not required for diagnosis
Bipolar II
• Hypomanic episode(s)
• >1 major depressive episodes required
Cyclothymic disorder
• At least 2 years of fluctuating, mild hypomanic & depressive symptoms that do not meet criteria for hypomanic
episodes or major depressive episodes
16
17
Schizoaffective Disorder
• Major depressive or manic episode concurrent with symptoms of schizophrenia
• Lifetime history of delusions or hallucinations for ≥2 weeks in the absence
DSM-5 of
criteria major depressive or manic episode
• Mood symptoms are present for majority of illness
• Not due to substances or another medical condition
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Key History
Onset, duration;
Somatic symptoms (fatigue, headache, abdominal distress);
Drug and alcohol use;
Life stresses
SIGEMCAPS
o Sleep patterns
o Decreased interest, lack of pleasure (anhedonia),
o Excessive guilt
o Decreased energy
o Low mood
o Decreased concentration
o Appetite and weight change
o Psychomotor agitation or retardation
o Suicidality, social function and environment
Family history of mood disorders; prior episodes; medications
Add to that:
Has anyone in your family ever experienced depression?
Has anyone in your family ever been diagnosed with a mental illness?
Do you have any friends or family members you can talk to for support?
Would you like to meet with a counselor to help you with your problem?
Would you like to join a support group?
Workup
CBC TSH
Beck Depression Inventory
PHQ—9 [Patient Health Questionnaire-9]
QIDS-SR16 [Quick Inventory of Depressive Symptomatology (Self Report)]
Mood Disorder Questionnaire
Blood alcohol level Urine toxicology
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PSYCHOSIS
Differential
Differential Diagnosis of DSM-5 Psychotic Disorders
Brief psychotic
>1 day & <1 month, sudden onset, full return to function
disorder
Schizophrenifor
m >1 month & <6 months, same symptoms as schizophrenia, functional decline not required
disorder
At least 6 months (includes at least 1 month of active symptoms, can include prodromal & residual periods),
Schizophrenia
requires functional decline
Schizoaffective Concurrent mood episode, active-phase symptoms of schizophrenia + at least 2 week lifetime history of
disorder delusions or hallucinations in the absence of prominent mood symptoms
Delusional One or more delusions >1 month, no other psychotic symptoms, normal functioning apart from direct
disorder impact of delusions
Delusional Disorder
Definition • ≥1 non- bizarre delusions for ≥1 months
• Other psychotic symptoms absent or not prominent
• Ability to function apart from delusion; behavior not obviously bizarre or odd
1. Persecutory type (the most common type): Delusions of being poisoned, harassed, or spied on.
2. Erotomanic (false belief that someone of higher status is in love with them),
Subtypes 3. Grandiose (great talent, insights, or achievements),
4. Jealous (unfaithful partners), and
5. Somatic (bodily functions and sensations)
20
N.B.
The diagnosis of schizoaffective disorder requires delusions or hallucinations for ≥2 weeks in the absence of a major mood
episode (depressive or manic).
Differentiating schizoaffective disorder from bipolar disorder, major depression with psychotic features, and schizophrenia
requires determining the temporal relationship of psychotic symptoms to mood symptoms.
o In bipolar disorder and major depression with psychotic features, psychotic symptoms occur exclusively during manic or
depressive episodes.
When the patient's mood is stable, there are no psychotic symptoms.
o In schizophrenia, if mood symptoms occur, they are present for a small portion of the illness.
Key History
Positive symptoms Delusions, hallucinations, disorganized thoughts, disorganized or catatonic behavior
Negative symptoms Blunted affect, social withdrawal, decreased motivation, decreased speech/thought
Cognitive symptoms Disorganized speech or thought patterns, paranoia
Self-reference People watching you, people talking about you, receiving messages from the media
symptoms
Age at first symptoms and/or hospitalization;
Previous psychiatric medications;
Family history;
.Alcohol and substance use
Considerable questions:
Tell me about yourself and your future goals.
How long have you been feeling unhappy/sad/anxious/confused?
Do you have any idea what might be causing this?
Would you like to share with me what made you feel this way?
Have you had any recent emotional or financial problems?
Have you had any recent traumatic event in your family?
Do you ever see or hear things that others can’t see or hear?
Do you hold beliefs about yourself or the world that other people would find odd?
Do you feel as if other people are trying to harm or control you?
Whom do you live with?
How do they react to your behavior?
Have you ever diagnosed with psychiatric (or mental) illness before?
Have you been on any psychiatric medication in the past?
Has anyone in your family ever been diagnosed with a mental illness?
Do you smoke?
Do you drink alcohol?
Do you use any recreational drug?
21
During the interview, describe your observations and impressions of the patient
I. General Description
1. Appearance: grooming (poor), poise, clothes (odd, poorly fitting), body type (disheveled, neat, childlike, etc.)
2. Behavior: quantitative and qualitative aspects of the patient’s motor behavior (restless, tics, etc.)
3. Attitude toward the examiner: (cooperative, frank, and seductive)
V. Thought
1. Form of thought: way in which a person thinks (flight of ideas, loose associations, tangentiality,
circumstantiality, etc.)
2. Content of thought: what the person is actually thinking about (delusions, paranoia, and suicidal ideas)
VII. Impulse Control: Estimated from history or behavior during the interview
IX. Reliability: Physician’s impressions of the patient’s ability to accurately assess his situation
Workup
Mental status exam
Beck Depression Inventory
CBC
TSH
Electrolytes, BUN/Cr
AST/ALT
Urine toxicology
22
DIZZINESS
Differential
Common causes of vertigo
• Brief episodes triggered by head movement
BPPV
• Dix-Hallpike maneuver causes nystagmus
• Recurrent episodes
Meniere
• Unilateral hearing loss & tinnitus
disease
• Feeling of fullness in the ear
• Acute, single episode that can last days
• Often follows viral syndrome (e.g. upper respiratory tract infection)
Vestibular
• Associated with nausea and vomiting
neuritis
• No hearing loss or tinnitus.
• Abnormal head thrust test
• Viral infection of cochlea and labyrinth
• Associated with nausea and vomiting
Acute Labyrinthitis
• There is hearing loss
• Can last days
• Vertigo associated with headache or other migrainous
phenomenon
Vestibular Migraine
(eg, visual aura)
• Symptoms resolve completely between episodes
Brainstem/ cerebellar • Sudden-onset, persistent vertigo
stroke • Usually other neurologic symptoms
Acoustic Neuroma
• Ataxia, gait unsteadiness, nystagmus, hearing loss, & tinnitus.
(Schwannoma)
Ototoxic Drugs • Aminoglycosides, & loop diuretics
BPPV = benign paroxysmal positional vertigo.
An abnormal head thrust test can help detect vestibular dysfunction
o The patient is asked to look at a fixed target.
o Rapid head movement away from the target normally causes the eyes to remain fixed on the target.
o However, patients with vestibulopathy are unable to maintain their eyes on the target.
o The eyes move away and then return back to the target with a horizontal saccade.
Key History
Clarify the dizziness,
o Lightheadedness versus vertigo (sensation of movement),
o ± Auditory symptoms (hearing loss, tinnitus),
o Onset, duration of episodes,
o Context (occurs with positioning, following head trauma),
o Intensity (confined to bed),
o Aggravating factors (head movement, standing);
Other associated symptoms (visual disturbance, URI, ear pain or discharge, nausea, palpitations, chest pain, loss of
consciousness, falls);
Neck pain or injury;
Medications;
History of atherosclerotic vascular disease.
23
Considerable questions:
Do you ever feel dizzy?
Tell me exactly what you mean by dizziness?
Did you feel the room is spinning around you? Or did you feel lightheaded as if you were going to pass out?
Did you black out or lose consciousness?
Did you notice any change in your hearing?
Do your ears ring?
Do you feel nauseated? Do you vomit?
What causes this dizziness to happen?
What makes you feel better?
Workup
Orthostatic vital signs
Dix Hallpike maneuver
Head thrust test
CBC
Urea, electrolytes
VDRL/RPR (syphilis is a cause of Meniere disease)
Audiometry
Electronystagmography
ECG
Echocardiography
CT-head
MRI/MRA-brain
24
LOSS OF CONSCIOUSNESS
Differential
Syncope
Likely etiology Clinical clues to diagnosis
Vasovagal or • Triggers Prolonged standing or emotional distress, painful stimuli
neutrally mediated syncope • Prodromal symptoms: Nausea, warmth, diaphoresis
Situational syncope • Triggers: Cough, micturition, defecation
Orthostatic hypotension • Postural changes in heart rate/blood pressure after standing suddenly
Aortic stenosis, HCM,
• Syncope with exertion or during exercise
anomalous coronary arteries
Ventricular arrhythmias • Prior history of CAD, Ml, cardiomyopathy, or ↓ EF
Sick sinus syndrome,
bradyarrhythmias, atrioventricular • Sinus pauses, ↑ PR or ↑ QRS duration
block
Torsades de pointes
• Hypokalemia, hypomagnesemia, medications causing ↑ QT interval
(acquired long QT syndrome)
• FHx of sudden death, ↑ QT interval, syncope with triggers
Congenital long QT syndrome
(exercise, startle, sleeping)
25
Key History
Presence or absence of preceding symptoms (nausea, diaphoresis, palpitations, pallor, lightheadedness),
Context (exertional, postural, traumatic, stressful, painful, or claustrophobic experience, dehydration);
Associated tongue biting or incontinence, tonic-clonic movements, prolonged confusion;
Dyspnea or pulmonary embolism risk factors;
History of heart disease, arrhythmia, hypertension, or diabetes;
Alcohol and drug use;
Medications and recent changes;
Family history of sudden death.
Workup
Orthostatic vital signs
CBC
Electrolytes, glucose
ECG
Holter monitoring
Echocardiography
EEG
MRI-brain
CT-head
LP-CSF analysis
V/Q scan
CTA-chest with IV contrast
D-dimer
Urine toxicology
26
NUMBNESS/WEAKNESS
Differential
M patient presents with slurred speech, right facial drooping and numbness, and right hand
Stroke weakness. Babinski sign is present on the right, he has weakness of the right side of his body, and his
deep tendon reflexes are brisk.
20·minute episode of right-sided arm and face numbness. The symptoms had totally resolved by the
TIA
time the patient got to the emergency department.
Intracranial neoplasm
Seizure with Todd
M patient presents with hemiparesis after a tonic-clonic seizure that resolved within a few hours
paresis
CNS vasculitis
Head injury
Subdural or epidural
hematoma
Hemiplegic migraine
Migraine with sensory
aura
F patient presents with ascending loss of strength and numbness in her lower legs over the past 2
Guillain-Barre syndrome
weeks. She had a recent URI. Examination shows weakness of her lower limbs with reduced reflexes.
F patient presents with weakness, loss of sensation, and tingling in her left leg that started this
morning. She also experienced right eye pain with reduced vision that resolved transiently 3 months
Multiple sclerosis
ago. She reports feeling "electric shocks" down her spine upon flexing her head. Examination reveals
left lower limb weakness and ataxia.
Segmental demyelination/Inflammation of the spinal cord (transverse myelitis) may occur with
multiple sclerosis.
Transverse myelitis It typically presents with the
Subacute onset of flaccid paralysis (spinal shock) and
Loss of all types of sensation (eg, pain and proprioception) below the level of spinal injury
F patient presents with occasional double vision and droopy eyelids at night with normalization by
Myasthenia gravis
morning. Her past medical history is significant for hypothyroidism.
• Gradually worsening severe local back pain
• Pain worse in the recumbent position/at night
Spinal cord compression • Early signs: Symmetric lower-extremity weakness, hypoactive/absent deep-tendon reflexes
• Late signs: Bilateral Babinski reflex, decreased rectal sphincter tone, paraparesis/paraplegia
with increased deep-tendon reflexes, sensory loss
F patient with tingling and numbness of her thumb, index finger, and middle finger for the past 5
Carpal tunnel syndrome
months. Her symptoms are constant, have progressively worsened, and are relieved with rest. She
secondary to overuse
works as a secretary.
Overuse injury of
median nerve
Cervical disc disease
Medial epicondylitis ("golfer elbow") manifests as localized tenderness over the medial epicondyle,
Medial epicondylitis
pain with resisted wrist flexion, and pain with passive wrist extension
M patient presents with tingling and numbness in his hands and feet (glove-and-stocking distribution)
Diabetic peripheral
for the past 2 months. He has a history of diabetes mellitus, hypertension, and alcoholism. There is
neuropathy
decreased soft touch, vibratory, and position sense in the feet, reflexes are absent.
Alcoholic peripheral
neuropathy
Peripheral neuropathy
Uremic nephropathy
Hypoglycemia
27
Vitamin B12 deficiency causes degeneration of the dorsal and lateral spinal tracts (subacute combined
Vitamin B12 deficiency degeneration).
It typically presents with impaired vibration/proprioception and spastic muscle weakness
Hypocalcemia
Hyperventilation
Causes damage the dorsal sensory roots leading to secondary degeneration of the dorsal columns.
Characterized by:
• Sensory ataxia walks with his legs wide apart
Neurosyphilis
• Lancinating pains ()أَلَ ٌم را ِمح
• Neurogenic urinary incontinence
• Associated with Argyll Robertson pupils
Conversion disorder
Malingering
Hyperventilation
The signs of multiple myeloma can be remembered using the mnemonic CRAB for
Calcium (hypercalcemia),
Renal failure (Proteinuria, Bence Jones protein),
Paraproteinemia/
myeloma Anemia (&Rouleaux formation of RBCs), and
Bone lesions (lytic)
+
Elevated serum protein: M spike is present on serum protein electrophoresis (SPEP)
Key History
Onset (acute, subacute, chronic, relapsing);
Distribution (unilateral, bilateral, proximal, distal);
Duration;
Progression;
Pain (especially headache, neck or back pain);
Constitutional symptoms, other neurologic symptoms;
History of diabetes, alcoholism, atherosclerotic vascular disease.
28
Workup
CBC
Electrolytes (Calcium), glucose HbA1,
Fasting lipid panel
PT/PTT/INR
ESR
ANA/ANCA
Serum B12
UA "urinalysis"
TFTs "thyroid function test"
Urea
VDRL/RPR
ECG
Echocardiography
Doppler U/S-carotid
CT-head
MRI-brain, with DWI/ MRA
MRI-spine
EEG
CPK
Electromyography
Nerve conduction studies
PFTs "pulmonary function test"
LP-CSF analysis
Serum and urine protein electrophoresis
Ice pack test
Tensilon (edrophonium) test
Anti-ACh receptor antibodies
For Myasthenia
Electromyography
gravis
Nerve conduction studies
CXR
CT-chest
N.B.
Other Cause of weakness:
Antiphospholipid antibody syndrome
Venous or arterial thromboembolic disease
• Deep venous thrombosis
Clinical • Pulmonary embolism
• Ischemic stroke/transient ischemic attack
Adverse pregnancy outcomes
• Unexplained embryonic or fetal loss
• Premature birth due to placental insufficiency or preeclampsia
• Lupus anticoagulant effect: Paradoxical aPTT prolongation not reversed on plasma mixing studies
Laborator
• Presence of specific antiphospholipid antibodies
y
o Anticardiolipin antibody
findings
o Anti-beta2-glycoprotein-1 antibody
29
FATIGUE AND SLEEPINESS
Differential
Depression Chronic fatigue syndrome
Adjustment disorder Hypothyroidism
Posttraumatic stress disorder Anemia
Generalized anxiety disorder Colon cancer
Psychotic or delusional disorder Renal failure
Obstructive sleep apnea Hypercalcemia
Narcolepsy Diabetes
Shift work sleep disorder Primary polydipsia
Sleep apnea Diabetes insipidus
Adjustment Disorder
An adjustment disorder involves emotional or behavioral symptoms (e.g. anxiety, depression, fatigue,
disturbance of conduct) developing within 3 months of an identifiable stressor and lasting no longer than 6
months once the stressor ceases.
Criteria
Symptoms are distressing and impairing but do not meet criteria for another mental disorder.
Stressors can be single or multiple (e.g. moving away from home, living alone for the first time, academic
stress)
Treatmen Psychotherapy, which focuses on developing coping mechanisms and improving the individual's response to and
t attitude about the stressful situation
30
Sleep Disorders
Normal aging
Decreased total sleep time,
Peak sleepiness earlier in the evening,
Sleep pattern Nocturnal awakenings,
Reduced sleep during early morning hours, and
Daytime napping/reduced daytime sleep latency
Increased sleep latency,
Changes in sleep
Decreased REM latency, and
architecture
decreased slow wave sleep (delta wave)
Difficulty falling asleep and/or maintaining sleep
Presentation
Patients do not feel a significant impairment in activities of daily living or cognition
Improve sleep hygiene measures and
Treatment
Cognitive behavioral therapy are used first line
31
Sleep Disorders (Cont.)
Narcolepsy
• Recurrent lapses into sleep or naps (minimum 3 times per week for 3 months)
DSM-5 • At least 1 of the following:
diagnostic o Cataplexy: Brief loss of muscle tone precipitated by strong emotion (e.g. laughter, excitement)
criteria o Low cerebrospinal fluid levels of hypocretin-1
o Shortened REM sleep latency (normal 90 min.)
Associate
• Hypnagogic (on falling asleep) or hypnopompic (on awakening) hallucinations
d
• Sleep paralysis: occurs during awakening.
features
Key History
Duration;
Sleep hygiene, snoring, waking up choking/ gasping, witnessed apnea;
Overexertion;
Stress, depression, or other emotional problems;
Lifestyle changes, shift changes at work;
Diet, weight changes;
Constitutional symptoms;
Changes in appetite;
Symptoms of thyroid disease;
History of bleeding or anemia;
Medications;
Alcohol, caffeine, and drug use
32
Workup
CBC
TSH, FT 3, FT 4
Fasting glucose
HbA1c
Electrolytes, BUN/Cr,
PHQ-9
Beck Depression Inventory
Nocturnal pulse oximetry
Polysomnography
ECG
UA
Urine toxicology
CBC
CMP "complete metabolic panel"
Rectal exam with stool guaiac test
Test for Colon cancer
Colonoscopy
Barium enema
CT -abdomen/pelvis
33
NIGHT SWEATS
Differential Workup
PPD/QuantiFERON-TB Gold
CBC
Tuberculosis
CXR
Sputum Gram stain, acid-fast stain, and culture
Acute HIV infection HIV antibody /RNA levels
CBC
Lymphoma
CT-chest
Leukemia CBC
Hyperthyroidism TSH, FT4
Pheochromocytoma 24-hour urinary catecholamine
Carcinoid syndrome 5-HIAA
Key History
Onset, duration, severity (e.g. sweating requiring changing of clothing or sheets), frequency, timing, patterns
(escalating, waxing, waning), precipitants (e.g. food, medications);
Associated diseases and symptoms (fever, recent URIs, associated cough, hemoptysis, pleuritic chest pain);
Lymphadenopathy, rash, malaise, weight loss, itching, diarrhea, nausea/vomiting, early satiety, anorexia;
Presence of significant risk factors (e.g. traveling to or emigrating from areas with endemic infections, IV drug use,
incarceration, working in health care);
Alcohol history, sexual exposure, sick contacts, exposure to high-risk populations such as prisoners or homeless
people;
Menstrual history, menopausal status, travel history.
34
INSOMNIA
Differential
Primary insomnia
o Is a diagnosis of exclusion.
o The DSM-5 defines it as dissatisfaction with sleep and one of the following:
Difficulty initiating sleep,
Difficulty maintaining sleep, or
Early-morning awakenings and an inability to fall back asleep
Stress-induced insomnia
Caffeine-induced insomnia
Insomnia with circadian rhythm sleep disorder
Insomnia related to major depressive disorder
Obstructive sleep apnea
Daytime fatigue in primary hypersomnia
Key History
Primary versus secondary, duration, description (trouble falling asleep vs multiple awakenings vs early-morning
awakening);
Daytime sleepiness;
Other medical problems keeping patient awake at night, such as arthritis (pain) or diabetes (polyuria);
Evidence of a common sleep disorder (e.g. sleep apnea, restless leg syndrome);
Associated symptoms, including loud snoring, nightmares, & depression;
Caffeine, alcohol, medication, and recreational drug use;
Work or lifestyle (jet lag or shift work), stressors, sleep environment and hygiene;
Presence of psychiatric symptoms (e.g. grandiose delusions, irritability);
Daytime effects.
Workup
CBC
TSH
ECG
Polysomnography
Urine toxicology
35
SORE THROAT
Differential Workup
CBC with differential and peripheral smear
Infectious mononucleosis Monospot test
Anti-EBV antibodies
Hepatitis AST I ALT /bilirubin/alkaline phosphatase
Viral or bacterial pharyngitis Throat culture
Centor criteria
C = cough Absence of cough Point
E = exudate Tonsillar exudates (ooze) +1
N = node Tender anterior cervical adenopathy +1
Streptococcal Pharyngitis T = temperature History of fever +1
Age under 15 add 1 point +1
OR = young OR old modifier
Age over 44 subtract 1 point -1
Key History
Duration, fever, other ENT symptoms (ear pain, nasal or sinus congestion), odynophagia, swollen glands, cough,
chest pain, SOB, rash, allergies, sick contacts, HIV risk factors.
36
COUGH/SHORTNESS OF BREATH
Differential Workup
CBC
CXR
Asthma
Peak flow measurement
PFTs
CBC
Bronchitis
CXR
CBC
Bronchiectasis Sputum Gram stain and culture
CXR
CBC
COPD-chronic bronchitis Sputum Gram stain and culture
COPD-emphysema CXR
PFTs
CBC
Pneumonia Sputum Gram stain and culture
CXR
Pneumocystis jirovecii Sputum Gram stain, acid-fast stain, silver stain, and culture
CBC
Induced sputum Gram stain and culture
Atypical pneumonia CXR
IgM detection for Mycoplasma pneumoniae
Urine Legionella antigen
URI-associated cough
CXR
("postinfectious")
Postnasal drip CXR
CBC
Sputum Gram stain and culture
Lung abscess
CXR
CT-chest
PPD/QuantiFERON-TB Gold
CBC
Tuberculosis
CXR
Sputum Gram stain, acid-fast stain, and culture
CBC
Pneumonitis
CXR
CBC
CXR
Interstitial lung disease
CT-chest
Bronchoscopy
CXR
Lung cancer
CT-chest
CXR
ECG
Pulmonary edema
CBC
ABG
GERD
CT-chest
Pericarditis ECG
Echocardiography
Echocardiography
CHF
BNP
Mitral valve stenosis Echocardiography
37
Key History
Acute/ subacute versus chronic, increased frequency of cough if chronic;
Timing;
Severity;
Presence/ description of sputum;
Presence of hemoptysis;
Associated symptoms (constitutional, i.e. fever, night sweats, weight loss; URI, postnasal drip, dyspnea, wheezing,
chest pain, & heartburn);
Exacerbating and alleviating factors, environmental factors, exposures;
Previous episodes;
Smoking history;
History of lung disease, post-tussive emesis, or heart failure;
Allergies;
Medications (especially ACE inhibitors).
Considerable questions:
SOB
Onset
When did it first start?
Time Course
When do you feel SOB?
Severity
Do you get SOB when you are climbing stairs?
How many steps can you climb before you get SOB?
How far do you walk on level ground before you have SOB?
Do you wake up at night short of breath?
Do you have to prop yourself up on pillows to sleep at night? & how many pillows do you use?
Association
Have you been wheezing?
Have you notice any swelling of your legs or ankles?
Exacerbating/ relieving factors
What make it worse?
What make it better?
38
CHEST PAIN
Differential Workup
ECG
CPK-MB, troponin x 3
CXR
Myocardial infarction (MI) CBC
Angina Electrolytes
Echocardiography
Cardiac catheterization
Exercise stress test (Stable angina)
ECG
CPK-MB, troponin x 3
CXR
Pericarditis
CBC
Electrolytes
Echocardiography
ECG
CPK-MB, troponin x 3
CXR
CBC, Electrolytes, BUN, Cr
Helical CT
Aortic dissection
CTA-chest with IV contrast
Echocardiography
TEE "transesophageal echocardiography"
MRI/MRA-aorta
Aortic angiography
ECG
CXR
CBC
Electrolytes
Pulmonary embolism
Helical CT
CTA-chest with IV contrast
Echocardiography
D-dimer
Doppler U/S-legs
CXR
Pneumothorax
CBC
CBC
Pneumonia/ Pleurisy Sputum Gram stain and culture
CXR
Barium swallow
Upper endoscopy
GERD Esophageal pH monitoring
Esophagitis H pylori stool antigen
Peptic ulcer disease ECG
Esophageal spasm CPK-MB, troponin
CXR
Esophageal rupture
Echocardiography
CBC
ESR
ECG
Costochondritis CXR
Muscle strain CPK-MB, troponin
CBC
CBC with reticulocyte count and peripheral smear
Sickle cell disease-acute chest
LDH
syndrome
ABG
39
Key History
Onset, location, quality, severity, radiation, duration, context (exertional, postprandial, positional, cocaine use,
trauma);
Associated symptoms (swearing, nausea, dyspnea, palpitations, sense of doom, fever);
Exacerbating and alleviating factors (especially medications);
History of similar symptoms;
Known heart or lung disease or history of diagnostic testing;
Cardiac risk factors (hypertension, hyperlipidemia, smoking, family history of early Ml);
Pulmonary embolism risk factors (history of DVT, coagulopathy, malignancy, recent immobilization, pregnancy).
Considerable questions:
PAIN
LIQ ORAAA
Location
Would you show me exactly where the pain is?
What brings the pain on?
Intensity
Is it constant or does it come & go?
On a scale of 1-10, with 10 being the worst pain you have ever felt, how would you rate your pain?
Quality
What is the pain like?
Would you describe it for me?
What is the character of the pain? For e.g. is it sharp, burning, cramping, or pressure like?
Onset/Duration
When did the pain start?
How long does it last?
How often does it come on?
Radiation
Does the pain travel anywhere?
Associated Sympt.
Is it associated with ……….. ?
Aggregating
Does anything make the pain worse?
Alleviating
Does anything make the pain better?
Have you had similar pain before?
40
PALPITATIONS
Differential Workup
CBC
Electrolytes
Cardiac arrhythmia TSH
ECG
Angina
TEE
Mitral valve prolapse Event monitor
Holter monitor
Exercise stress test (Stable angina)
Hypoglycemia Glucose
ECG
Hyperthyroidism Electrolytes
Pheochromocytoma TSH
Carcinoid syndrome 24-hour urinary catecholamines
5-HIAA
Hyperventilation episodes
Panic attack
Generalized anxiety disorder CBC
Social phobia Electrolytes
Specific phobia ECG
Agoraphobia/ specific phobia TSH, FT4
Acute stress disorder
Avoidant personality disorder
Substance abuse (e.g. cocaine, amphetamines)/dependence or
Urine toxicology
withdrawal (e.g. alcohol, benzodiazepines)
41
Anxiety Disorders
Differential Diagnosis of DSM-5 Anxiety Disorders
Social anxiety Disorder
Anxiety restricted to social & performance situations, fear of scrutiny & embarrassment
(social phobia)
Panic disorder Recurrent, unexpected panic attacks
Specific phobia Excessive anxiety about a specific object or situation (phobic stimulus)
Generalized anxiety
Chronic multiple worries, anxiety, tension
disorder
Panic Disorder
• Recurrent & unexpected panic attacks with ≥4 of the following:
o Chest pain, palpitations, shortness of breath
o Trembling ()إرتجاف, sweating, nausea
Clinical
o Dizziness, paresthesias
features
o Derealization, depersonalization
o Fear of losing control, dying
• Worry about additional attacks, avoidance behavior
42
Specific Phobia
• Marked anxiety about a specific object or situation (the phobic stimulus) for ≥6 months
History & • Common types: Flying, heights, animals, injections, blood
clinical • Avoidance behavior (avoiding bridges and elevators, refusing work requiring travel)
features • Common, 10% of population
• Usually develops in childhood; can develop after traumatic event
• Cognitive-behavioral therapy with exposure is treatment of choice
Treatmen
• Short-acting benzodiazepines may help acutely
t
(therapist unavailable, insufficient time) but have a limited role
Key History
Onset, gradual versus acute onset/offset, context (exertion, caffeine, energy drinks or supplements, anxiety);
Duration of episodes;
Associated symptoms (lightheadedness, loss of consciousness, chest pain, dyspnea, fever, sweating, pale skin,
flushing, diarrhea);
Hyperthyroid symptoms;
History of bleeding or anemia;
History of heart disease, hypertension, or diabetes.
43
WEIGHT LOSS
Differential Workup
Dieting/ diet drugs
TSH, FT4
Hyperthyroidism
CBC
Anorexia nervosa BMP "basic metabolic panel"
Malabsorption HIV antibody
Urine toxicology
HIV infection
Age-appropriate cancer screenings
Cancer
Key History
Amount, duration, ± intention;
Diet and exercise history;
Body image, anxiety or depression;
Constitutional symptoms (fatigue, malaise, fever, chills);
Hyperthyroid symptoms (palpitations, tremor, diarrhea);
Family history of thyroid disease;
HIV risk factors;
Tobacco, alcohol, and drug use;
Medications;
History of cancer;
Blood in urine or stool.
N.B.
44
WEIGHT GAIN
Differential Workup
CBC
Smoking cessation BMP "basic metabolic panel",
Glucose
CBC
Drug side effect BMP,
Glucose
Hypothyroidism TSH, FT4
24-hour urine free cortisol
Cushing syndrome
Dexamethasone suppression test
Glucose
Diabetes mellitus HbA1c
Glucose tolerance test
Blood glucose
Plasma insulin after induced hypoglycemia (72 hours fasting)
C-peptide
Insulinoma Whipple triad:
o Hypoglycemic symptoms brought on by fasting.
o Blood glucose <50 mg/dL during symptomatic attack.
o Glucose administration brings relief of symptoms.
Reactive postprandial
Glucose tolerance test
hypoglycemia
Beck Depression Inventory
Atypical depression PHQ—9 [Patient Health Questionnaire-9]
QIDS-SR16 [Quick Inventory of Depressive Symptomatology (Self Report)]
Pregnancy Urine β-hCG
Transvaginal U/S
Polycystic ovary syndrome FSH:LH ratio
Glucose tolerance test
Key History
Amount, duration, timing (relation to medication changes, smoking cessation, depression);
Diet history;
Hypothyroid symptoms (fatigue, constipation, skin/hair/nail changes);
Menstrual irregularity, hirsutism;
Medical history;
Sexual history;
Alcohol and drug use.
45
DYSPHAGIA
Differential Workup
Upper endoscopy
Esophagitis
HIV antibody and viral load
Esophagitis ( CMV, HSV, HIV, pill-induced)
CD4count
Barium swallow
Diffuse esophageal spasm
Esophageal manometry
Barium swallow
Esophageal stricture
Upper endoscopy
Barium swallow
Zenker diverticulum
Upper endoscopy
CBC
Serum iron, ferritin, TIBC
Plummer-Vinson syndrome
Barium swallow
Upper endoscopy
ANAs
Antitopoisomerase I (antiscleroderma-70) Ab
Systemic sclerosis Upper endoscopy
Barium swallow
Esophageal manometry
Barium swallow
Achalasia
Esophageal manometry
Barium swallow
Upper endoscopy
GERD
Esophageal pH monitoring
H pylori stool antigen
CBC
CXR
Esophageal cancer Upper endoscopy with biopsy
Barium swallow
CT-chest.
Key History
Solids or liquids versus both solids and liquids, ± progression, occurring at the beginning or middle of swallow;
Constitutional symptoms (especially weight loss);
Hoarseness, drooling, regurgitation of liquids versus undigested food, odynaphagia, GERD symptoms;
Medications;
HIV risk factors;
Weakness, focal neurologic symptoms, cognitive decline;
History of anxiety, smoking, Raynaud phenomenon
46
Esophageal Disorders
Significant Symptoms Underlying Pathology Manometry Results
Smooth muscle atrophy Hypomotility and incompetence of the
Systemic Dysphagia, choking, heartburn, and
and fibrosis in the lower lower esophageal sphincter "i.e. decreased
sclerosis (SSc) hoarseness
esophagus LES pressure"
Diffuse
Chest pain and dysphagia rather Dysfunction of inhibitory Periodic, high-amplitude, non-peristaltic
esophageal
than heartburn neurons contractions
spasm
Heartburn that does not respond to
Eosinophilic Eosinophilic infiltration
standard medications for Esophageal hypercontractility
esophagitis of esophageal mucosa
gastroesophageal reflux disease
Aperistalsis in the distal esophagus (as in
Dysphagia and regurgitation of Loss of intramural
Achalasia SSc) but achalasia causes increased LES
undigested food neurons
pressure and incomplete LES relaxation
Dysphagia, regurgitation, and
aspiration Cell-mediated immune
Polymyositis PLUS activation → chronic Functionally similar to SSc
Symmetric proximal muscle inflammation
weakness
47
NECK MASS
Differential Workup
CBC with differential
BMP
Hodgkin/non-Hodgkin lymphoma
ESR,CRP
Lymph node biopsy
PPD/QuantiFERON-TB Gold
Tuberculosis
CXR
HIV HIV antibody/RNA
TSH
Thyroid nodule U/S-neck
Fine needle aspiration
Metastatic GI or head and neck malignancy Upper endoscopy
Key History
Onset, progression over rime, size, location, mobility, pain, movement with swallowing;
Obstructive symptoms (dysphagia, shortness of breath);
Other masses;
Associated symptoms (constitutional, hematologic, GI, endocrine, pulmonary);
Ill contacts;
Tobacco/alcohol/IV drug use,
Sexual history.
48
NAUSEA/VOMITING
Differential Workup
Urine hCG
Pregnancy Pelvic exam
U/S-transvaginal
CBC
Hypercalcemia
Electrolytes, calcium, glucose, liver function tests
CBC
Diabetes mellitus
Electrolytes, calcium, glucose, liver function tests
Barium swallow
Upper endoscopy
Gastritis/GERD
Esophageal pH monitoring
H pylori stool antigen
UTI UA, urine culture
PHQ—9 [Patient Health Questionnaire-9]
Depression/ eating
QIDS-SR16 [Quick Inventory of Depressive Symptomatology (Self Report)]
disorder
Mood Disorder Questionnaire
Blood alcohol level
Substance use (e.g. alcohol)
Urine toxicology
Key History
Acuity of onset, time course of symptoms, ± abdominal pain, relation to meals, sick contacts, food poisoning
symptoms, pregnancy symptoms;
Neurologic symptoms (headache, stiff neck, vertigo, focal numbness or weakness);
Urinary symptoms;
Other associated GI symptoms (heartburn, reflux, diarrhea, constipation, melena, jaundice, abdominal distention,
chest pain, rash, food intolerances);
Constitutional symptoms (weight loss, night sweats, & fevers);
Exacerbating and alleviating factors;
Medications;
History of prior abdominal surgery;
Alcohol and drug use;
History of anxiety, depression, and restrictive eating.
49
ABDOMINAL PAIN
RUQ abdominal pain Epigastric pain LUQ abdominal pain Flank pain
Differentia Differential Workup
Differential Workup Differential Workup Workup
l
Splenic Nephrolithiasi
Acute cholecystitis Pancreatic cancer
rupture s
Choledocholithiasi Kidney Renal cell
Cholangiocarcinoma UA, urine
s stone carcinoma
culture
Rib Pyelonephritis
Hepatitis Primary sclerosing cholangitis CBC and
fracture
Electrolytes sensitivity
CXR GI etiology , urine
Ascending
Acute pancreatitis Pneumonia (e.g. cytology
cholangitis Rectal exam, stool for CT-abdomen
U/S-abdomen (if
appendicitis) BUN/Cr
occult blood CT-
CBC Perforated hemodynamicall
Acute gallstone abdomen
Chronic pancreatitis peptic y unstable)
cholangitis Electrolytes, BUN/Cr U/S-renal
CBC ulcer
Amylase, lipase, lactate, KUB
AST/ALT/bilirubin/alkalin
Primary sclerosing AST/ALT/bilirubin/alkalin IVP
e phosphatase
cholangitis Gallstone cholangitis e phosphatase Splenic Blood
U/S-abdomen
Primary biliary Blood culture infarct culture
CT-abdomen
cirrhosis (PBC) U/S-abdomen
Viral hepatitis serologies
CXR "standing"
Peptic ulcer MRCP Cholecystitis/choledocholithiasi
KUB
disease ERCP s
CT-abdomen
Firz-Hugh-Curtis UA
Acute viral hepatitis Upper endoscopy
syndrome Anti-mitochondrial
Upper endoscopy
antibodies (for PBC)
Acute subhepatic (including H pylori
Acute alcoholic hepatitis testing)
appendicitis
Upper GI series
Acute
Abdominal aortic aneurysm ECG
glomerulonephritis
Peptic ulcer disease
Perforated peptic ulcer
Gastritis
GERD
Mesenteric ischemia
Boerhaave syndrome
50
ABDOMINAL PAIN (Cont.)
Peri-umbilical pain RLQ pain LLQ pain Supra-pubic pain
Differential Workup Differential Workup Differential Workup Differential Workup
Pelvic
Intestinal obstruction Appendicitis Diverticulitis inflammatory
disease
Small bowel or colon Pelvic
Ovarian torsion Crohn disease Endometriosis exam
cancer
Pelvic exam Rectal exam Urine hCG
Ulcerative Cervical
Volvulus Nephrolithiasis Urine hCG colitis CBC Dysmenorrhea
Doppler U/S- cultures
Rectal exam Electrolytes
Gastroenteritis Ectopic pregnancy Gastroenteritis Vaginitis CBC
CBC pelvis/transvaginal CXR
Rectal exam ESR
Electrolytes Ruptured ovarian AXR
Food poisoning
UA Abscess Cystitis UA, urine
Stool for occult blood cyst CT-
Stool for ova and CBC culture
Pelvic inflammatory abdomen Spontaneous
Blood culture U/S-pelvis
Ileus parasitology, Entamoeba disease Blood abortion
histolytica antigen AXR culture
Hernia AXR Bowel infarction or CT-abdomen Pyelonephritis
CT -abdomen/ pelvis with perforation Laparoscopy
Mesenteric contrast Chlamydia and gonorrhea
Colonoscopy Gastroenteritis testing, VDRL/RPR
ischemia/infarction
Mesenteric angiography
Irritable bowel syndrome Crohn disease
Barium enema
Crohn disease Urine hCG Volvulus or other
intestinal obstruction
Celiac disease
Chronic pancreatitis
GI parasitic infection
(amebiasis, giardiasis)
Endometriosis
51
ABDOMINAL PAIN (Cont.)
52
Key History
Location, quality, intensity, duration, radiation, timing (relation to meals or menstruation);
Associated symptoms (constitutional, GI, cardiac, pulmonary, renal, pelvic);
Exacerbating and alleviating factors;
History of similar symptoms;
History of abdominal surgeries, trauma, gallstones, renal stones, atherosclerotic vascular disease;
Medications (e.g. NSAIDs, corticosteroids);
Alcohol and drug use;
Domestic violence, stress/anxiety, sexual history, pregnancy history.
Considerable questions:
PAIN
LIQ ORAAA
Location
Would you show me exactly where the pain is?
What brings the pain on?
Intensity
Is it constant or does it come & go?
On a scale of 1-10, with 10 being the worst pain you have ever felt, how would you rate your pain?
Quality
What is the pain like?
Would you describe it for me?
What is the character of the pain? For e.g. is it sharp, burning, cramping, or pressure like?
Onset/Duration
When did the pain start?
How long does it last?
How often does it come on?
Radiation
Does the pain travel anywhere?
Associated Sympt.
Is it associated with ……….. ?
Aggregating
Does anything make the pain worse?
Alleviating
Does anything make the pain better?
Have you had similar pain before?
53
Common GI Diseases
Diffuse esophageal spasm
Pathophysiolog
• Uncoordinated, simultaneous contractions of esophageal body
y
• Intermittent chest pain
Symptoms
• Dysphagia for solids & liquids
• Esophagram: "Corkscrew" pattern
Diagnosis • Manometry: Intermittent peristalsis, multiple simultaneous
contractions
• Calcium channel blockers
Treatment
• Alternate: Nitrates, tricyclics
Zenker diverticulum
• Usually ≥age 60
• More common in males
Clinical • Dysphagia
features • Halitosis
• Regurgitation & aspiration
• Variable neck mass
• Barium esophagram
Diagnosis
• Esophageal manometry
• Open/endoscopic surgery
Management
• Cricopharyngeal myotomy
Dyspepsia
definition chronic, intermittent epigastric pain and postprandial discomfort
Nonsteroidal anti-inflammatory drugs,
Gastric or esophageal cancer,
Causes Functional dyspepsia,
Gastroesophageal reflux disease (GERD), and
Symptomatic infection (e.g. peptic ulcer disease [PUD]) with Helicobacter pylori.
Diagnosis Endoscopy should be considered in patients age >55 or with alarm symptoms (e.g. weight loss, bleeding, anemia,
dysphagia, persistent vomiting).
In those without alarm symptoms, evaluation for H pylori infection (e.g. urea breath testing, stool antigen testing)
54
can be performed.
55
Common GI Diseases (Cont.)
Zollinger-EIIison syndrome
• Age 20-50
Epidemiology
• 80% Sporadic/20% MEN1
• Multiple & refractory peptic ulcers
Clinical
• Ulcers distal to duodenum
features
• Chronic diarrhea
• Markedly elevated serum gastrin (>1000 pg/ml) in the presence of normal gastric acid (pH
Diagnosis
<4)
• Endoscopy
Workup
• CT/MRI & somatostatin receptor scintigraphy for tumor localization
Celiac disease
• First-degree relative with celiac disease
• Autoimmune thyroiditis
Risk
• Type I diabetes
factors
• Down syndrome
• Selective lgA deficiency
• Gastrointestinal
o Abdominal pain
o Nausea &/or vomiting
o Diarrhea (rarely, constipation)
Symptoms o Flatulence & bloating
• Extraintestinal
o Short stature & weight loss
o Iron deficiency anemia
o Dermatitis herpetiformis
• ↑ Tissue transglutaminase lgA
Diagnosis • ↑ Anti -endomysial antibodies
• Duodenal biopsy showing ↑ intraepithelial lymphocytes & flattened villi
56
Common GI Diseases (Cont.)
Small bowel obstruction
• Colicky abdominal pain, vomiting
Clinical • Inability to pass flatus or stool
presentation • Hyperactive → absent bowel sounds
• Distended & tympanic abdomen
• Dilated loops of bowel with air-fluid levels
Diagnosis • Partial: Air in colon
• Complete: Transition point (abrupt cutoff), no air in colon
• Ischemia/necrosis (strangulation)
Complications
• Bowel perforation
• Bowel rest, nasogastric tube suction, intravenous fluids
Management
• Surgical exploration for signs of complications
57
Common GI Diseases (Cont.)
Small intestinal bacterial overgrowth
• Anatomical abnormalities (eg, strictures, surgery)
Etiology • Motility disorders (eg, diabetes mellitus, scleroderma)
• Other causes (eg, end-stage renal disease, AIDS, cirrhosis, advanced age)
• Abdominal pain, diarrhea, bloating, excess flatulence, malabsorption, weight loss, anemia, &
Signs/ symptoms
nutritional deficiencies
• Endoscopy (gold standard) with jejunal aspirate showing >105 organisms/ml
Diagnosis
• Glucose breath hydrogen testing
Common organism • Streptococci, Bacteroides, Escherichia, Lactobacillus
• 7-10-day course of antibiotics (eg, rifaximin, amoxicillin-clavulanate)
• Avoid antimotility agents (eg, narcotics)
Treatment
• Dietary changes (eg, high-fat, low-carbohydrate)
• Trial of promotility agents (eg, metoclopramide)
58
Common GI Diseases (Cont.)
Crohn disease
Gl: Abdominal pain, nonbloody diarrhea, oral ulcers, malabsorption, weight loss, fistula/abscess
Clinical formation
findings Extraintestinal: MSK (arthritis), eye (eg, uveitis, scleritis, episcleritis), skin (eg, erythema
nodosum, pyoderma gangrenosum)
↑ WBC, iron deficiency anemia, ↑ inflammatory markers
Endoscopy: Focal ulcerations adjacent to normal mucosa (cobblestoning), skip areas of
Diagnosis
disease
Radiography: Strictures, bowel wall thickening
5-ASA drugs, corticosteroids, antibiotics
Treatment Azathioprine
Anti-TNF therapies
ASA = aminosalicylic acid; Gl = gastrointestinal; MSK = musculoskeletal; TNF = tumor necrosis factor;
WBC = white blood cell.
Ulcerative colitis
• Bloody diarrhea
Symptoms
• Weight loss, fever
• Erythema, friable mucosa
• Pseudopolyps
Endoscopic
findings • Involvement of rectosigmoid
• Continuous colonic involvement (no skip
lesions)
• Mucosal & submucosal inflammation
Biopsy
• Crypt abscesses
• Toxic megacolon
• Primary sclerosing cholangitis
Complications • Colorectal cancer
• Erythema nodosum, pyoderma gangrenosum
• Spondyloarthritis
59
Common GI Diseases (Cont.)
Common causes of steatorrhea
• Chronic pancreatitis due to alcohol abuse, cystic fibrosis, or
Pancreatic insufficiency autoimmune/hereditary pancreatitis
• Pancreatic cancer
• Small-bowel Crohn disease
• Bacterial overgrowth
Bile salt-related • Primary biliary cirrhosis
• Primary sclerosing cholangitis
• Surgical resection of ileum (at least 60-100 cm)
• Celiac disease surface
Impaired intestinal
• AIDS enteropathy
epithelium
• Giardiasis
• Whipple disease
Other rare causes • Zollinger-EIIison syndrome
• Medication-induced
60
Common GI Diseases (Cont.)
Hepatic encephalopathy
• Drugs (eg, sedatives, narcotics)
• Hypovolemia (eg, diarrhea)
• Electrolyte changes (eg, hypokalemia)
Precipitating factors
• ↑ nitrogen load (eg, Gl bleeding)
• Infection (eg, pneumonia, UTI, SSP)
• Portosystemic shunting (eg, TIPS)
• Sleep pattern changes
• Altered mental status
Clinical presentation
• Ataxia
• Asterixis
• Correct precipitating causes
(eg, fluids, antibiotics)
Treatment
• ↓ blood ammonia concentration
(eg, lactulose, rifaximin)
Gl = gastrointestinal; SBP = spontaneous bacterial peritonitis;
TIPS = Transjugular lntrahepatic Portosystemic Shunt; UTI= urinary tract
infection
61
Common GI Diseases (Cont.)
Liver disorders unique to pregnancy
Disorder Presentation Laboratory abnormalities
• Elevated bile acids
ICP • Intense pruritus • Elevated levels of liver aminotransferases
• Diagnosis of exclusion
• Preeclampsia • Hemolysis
HELLP • Right upper-quadrant pain • Moderately elevated liver aminotransferases
• Nausea/vomiting • Thrombocytopenia
• Malaise • Hypoglycemia
• Right upper-quadrant pain • Mildly elevated liver aminotransferases
AFLP
• Nausea/vomiting • Elevated bilirubin
• Sequelae of liver failure • Possible disseminated intravascular coagulopathy
ICP = intrahepatic cholestasis of pregnancy; HELLP = hemolysis, elevated liver enzymes, and low platelets;
AFLP = Acute fatty liver of pregnancy
Acute pancreatitis
• Chronic alcohol use (~ 40%)
• Gallstones (~ 40%)
• Hypertriglyceridemia
Etiology
• Drugs (eg, didanosine, azathioprine, valproic acid, thiazides)
• Infections (eg, CMV, Legionella, Aspergillus)
• Iatrogenic (post-ERCP, ischemic/atheroembolic)
Diagnosis (requires 2 of the following)
• Acute epigastric pain radiating to the back
• ↑ Amylase or lipase >3 times normal limit
• Abnormalities on imaging consistent with pancreatitis
Clinical (focal or diffuse pancreatic enlargement with heterogeneous enhancement with intravenous
presentation contrast [CT] or diffusely enlarged & hypoechoic pancreas [ultrasound])
Other findings
• Nausea, vomiting, leukocytosis
• ALT level >150 U/L suggests biliary pancreatitis
• Severe disease: Fever, tachypnea, hypoxemia, hypotension
• Pleural effusion
• Ileus
Complications
• Pancreatic pseudocyst/abscess/necrosis
• Acute respiratory distress syndrome
62
Common GI Diseases (Cont.)
Overview of chronic pancreatitis
• Alcohol use
• Cystic fibrosis (common in children)
Etiology
• Ductal obstruction (e.g. malignancy, stones)
• Autoimmune
• Chronic epigastric pain with intermittent pain-free intervals
Clinical presentation • Malabsorption-steatorrhea, weight loss
• Diabetes mellitus
• Amylase/lipase can be normal & nondiagnostic
Laboratory
results/Imaging • CT scan or MRCP can show calcifications, dilated ducts & enlarged
pancreas
• Pain management
• Alcohol & smoking cessation
Treatment
• Frequent, small meals
• Pancreatic enzyme supplements
Pancreatic adenocarcinoma
• Smoking
• Hereditary pancreatitis
Risk factors
• Nonhereditary chronic pancreatitis
• Obesity & lack of physical activity
• Systemic symptoms (e.g. weight loss, anorexia) (>85%)
• Abdominal pain/back pain (80%)
Clinical • Jaundice (56%)
presentation • Recent-onset atypical diabetes mellitus
• Unexplained migratory superficial thrombophlebitis
• Hepatomegaly & ascites with metastasis
• Cholestasis ( ↑ alkaline phosphatase & direct bilirubin)
Laboratory studies • ↑ Cancer-associated antigen 19-9 (not as a screening test)
• Abdominal ultrasound (if jaundiced) or CT scan (if no jaundice)
Acute cholangitis
• Fever, jaundice, right upper quadrant pain (Charcot triad)
Clinical • Mental status changes, hypotension (Reynolds pentad)
presentation • Liver failure
• Acute kidney injury
• Biliary dilation on ultrasound or CT scan
Diagnosis • ↑ Alkaline phosphatase, gamma-glutamyl-transpeptidase, direct bilirubin
• Leukocytosis, ↑ C-reactive protein
• Biliary drainage: Endoscopic retrograde Cholangiopancreatography (ERCP)
with
Treatment sphincterotomy or percutaneous transhepatic cholangiography (PTC)
• Broad-spectrum antibiotics: Beta-lactam/beta-lactamase inhibitor,
third-generation cephalosporin + metronidazole
63
64
Common GI Diseases (Cont.)
Clinical features of malignant biliary obstruction
Cholangiocarcinoma
Etiologies Pancreatic or hepatocellular carcinoma
Metastatic cancer (eg, colon, gastric)
Jaundice (can be painless)
Pruritus, weight loss, acholic stools with dark urine
Clinical Examination: Can be normal or show right upper- quadrant mass, tenderness, or
presentation hepatomegaly
Laboratory: ↑ Direct bilirubin, ↑ alkaline phosphatase & gamma-glutamyl transpeptidase &
normal to ↑ AST &ALT
Abdominal imaging (ultrasound or computed tomography)
Evaluation Magnetic resonance cholangiopancreatogram or endoscopic retrograde
cholangiopancreatogram if imaging is nondiagnostic
Laboratory/Imagin • Cholestatic liver function test pattern (serum aminotransferases typically <300 UIL)
g • Multifocal stricturing/dilation of intrahepatic &/or extrahepatic bile ducts on cholangiography
• Fibrous obliteration of bile ducts with concentric replacement by connective tissue in an
Liver biopsy
"onion-skin" pattern
• Intrahepatic &/or extrahepatic biliary stricture
• Cholangitis & cholelithiasis (cholesterol &/or pigment stones)
Complications • Cholangiocarcinoma (10%-15% lifetime risk)
• Cholestasis (eg, ↓ fat-soluble vitamins, osteoporosis)
• Colon cancer
65
Common GI Diseases (Cont.)
Water-soluble vitamins
Vitamin Source Deficiency
Beriberi (peripheral neuropathy,
Whole grains, meat, fortified cereal,
B1 (thiamine) heart failure)
nuts, legumes
Wemicke-Korsakoff syndrome
Angular cheilosis, stomatitis,
glossitis
B2 (riboflavin) Dairy, eggs, meat, green vegetables
Normocytic anemia
Seborrheic dermatitis
Pellagra (dermatitis, diarrhea,
B3 (niacin) Meat, whole grains, legumes
delusions/dementia, glossitis)
Cheilosis, stomatitis, glossitis,
B6 (pyridoxine) Meet, whole grains, legumes, nuts
Irritability, confusion, depression
Green leafy vegetables, fruit, meat, Megaloblastic anemia
B9 (folate, folic acid)
fortified cereal/grains Neural tube defects (fetus)
Megaloblastic anemia
B12 (cobalamin) Meat, dairy Neurologic deficits (confuston,
paresthesias, ataxia)
Citrus fruits, strawberries, tomatoes, Scurvy (punctate hemorrhage,
C (ascorbic acid)
potatoes, broccoli gingivitis, corkscrew hair)
66
CONSTIPATION/DIARRHEA
Altering constipation &
Constipation Diarrhea
diarrhea
67
Key History
Onset, frequency, color, odor, and volume of stools;
Presence of mucus or flatulence;
Whether stools float in bowl;
Duration of change in bowel habits;
Associated symptoms (constitutional, abdominal pain, bloating, tenesmus, sense of incomplete evacuation, melena
or hematochezia);
Context (after meals, association with particular foods);
Thyroid disease symptoms (e.g. feeling hot/cold, palpitations, weight loss/gain);
Diet (especially fiber and fluid intake);
Medications (including recent antibiotics);
Sick contacts, travel, camping, HIV risk factors;
History of abdominal surgeries, diabetes, pancreatitis;
Alcohol and drug use;
Family history of colon cancer.
Considerable questions:
Bowel Symptoms
Has there been any change in your bowel movement?
Do you have diarrhea?
Are you constipated?
How long have you had diarrhea/constipation?
How many bowel movements do you have per day/week?
What does your stool look like?
What color is your stool?
Is there any mucous or blood in it?
Do you feel any pain when you have a bowel movement?
Did you travel recently?
Do you feel as though you strain to go to the bathroom or a very small amount of feces come out?
Have you lost control of your bowel?
Do you feel as though you have very little time to make it to the bathroom once you have the urge to have the bowel
movement?
68
UPPER GI BLEEDING
Differential Workup
Bleeding peptic ulcer CBC, type and cross
Gastritis CMP
AST/ALT /bilirubin/alkaline phosphatase
Mallory-Weiss tear
INR
Esophageal varices Rectal exam, stool guaiac testing
Gastric cancer Upper endoscopy (including H pylori testing if ulcer is confirmed)
Key History
Amount, duration, context (after severe vomiting. alcohol ingestion, nosebleed);
Associated symptoms (constitutional symptoms such as fevers, weight loss, or night sweats; nausea; abdominal
pain; dyspepsia);
Medications (especially blood thinners such as warfarin or factor Xa inhibitors, NSAIDs, and corticosteroids);
History of peptic ulcer disease, liver disease, abdominal aortic aneurysm repair, easy bleeding.
BLOOD IN STOOL
Differential Workup
Hemorrhoids
Anal fissure
Proctitis Rectal exam with stool guaiac testing
CBC,CMP
Diverticulosis
AST/ALT /bilirubin/alkaline phosphatase
Dysentery PT/PTT
Angiodysplasia CEA
Colonoscopy
Inflammatory bowel disease
CT -abdomen/pelvis
Ischemic bowel disease Tagged RBC scan
Upper GI bleeding
Colorectal cancer
Key History
Melena versus bright red blood per rectum;
Amount, duration;
Associated symptoms (constitutional symptoms like fevers, weight loss, or night sweats; abdominal or rectal pain;
tenesmus; constipation or diarrhea);
Menstrual cycle;
Trauma;
History of similar symptoms;
Prior colonoscopy;
Medications (blood thinners, NSAIDs);
History of easy bleeding or atherosclerotic vascular disease, renal disease, aortic valve disease, liver disease,
alcoholism, or abdominal aortic aneurysm repair;
Family history of colon cancer.
69
HEMATURIA
Differential Workup
Nephrolithiasis
UTI; Pyelonephritis Genitourinary and rectal exams
CBC,CMP
Acute glomerulonephritis (e.g. IgA nephropathy)
PT/PTT,PSA
Polycystic kidney disease UA, urine cytology
Coagulation disorder (i.e. factor VIII antibodies) U/S-renal/bladder
CT-abdomen/ pelvis
Bladder cancer
Cystoscopy
Renal cell carcinoma Prostate biopsy
Prostate cancer
Key History
Amount, duration, presence of clots;
Associated symptoms (constitutional symptoms such as fevers, weight loss, or weight sweats; renal colic; dysuria;
irritative voiding symptoms);
Timing along the stream where blood appears (initial vs terminal vs throughout);
Medications (blood thinners, NSAIDs);
History of vigorous or prolonged exercise, trauma, smoking, stones, cancer, or easy bleeding;
Skin bruising (purpura).
Considerable questions:
Urinary Symptoms
Has there been any change in your urinary habits?
How often do you have to urinate?
Do you have any difficulty urinating?
Do you need to strain/push during urination?
Do you have any pain or burning during urination?
Have you noticed any weakness in your stream?
Have you noticed any change in the color of your urine?
Have you noticed any blood in your urine?
Do you feel that you haven’t completely emptied your bladder after urination?
Do you have to wake up at night to urinate?
Do you feel as though you need to urinate but then very little urine comes out?
Do you feel as though you have to urinate all the time?
Do you feel as though you have very little time to make it to the bathroom once you feel the urge to urinate?
70
OTHER URINARY SYMPTOMS
Presentation Differential Workup
Benign prostatic hypertrophy (BPH) UA
Prostate cancer PSA
LOTS
CBC,CMP
Nocturia, urgency, weak stream, and Urolithiasis U/S-prostate (transrectal)
terminal dribbling, urinary retention,
UTI CT-pelvis
lower back pain
MRI-spine
Renal cell carcinoma Prostate biopsy
Urethritis UA, urine culture
Cystitis Gram stain and culture of urethral
discharge
Symptoms of infection Prostatitis CBC,
Burning sensation during urination and Acute pyelonephritis CMP
urethral discharge urinary frequency, NAAT urine for chlamydia and
Nephrolithiasis
fever, chills, and nausea. gonorrhea screening
There is left CVA tenderness on exam RPR
HIV
Renal cell carcinoma
U/S-renal
CT -abdomen,
Key History
Duration, obstructive symptoms (hesitancy, diminished stream, sense of incomplete bladder emptying, straining, postvoid
dribbling, leakage with cough or sneeze, incontinence), irritative symptoms (urgency, frequency, nocturia), constitutional
symptoms (fevers, weight loss, night sweats);
Bone pain;
Medications;
History of UTIs, urethral strictures, or urinary tract instrumentation;
Renal stones, diabetes, alcoholism.
71
ERECTILE DYSFUNCTION
Differential Workup
Psychogenic ED Genital and rectal exams
Drug--related erectile dysfunction (ED) CBC
CMP
ED caused by hypertension
TSH
ED caused by diabetes mellitus Fasting glucose level
Peyronie disease Testosterone level
Key History
Duration, severity, presence of nocturnal erections, libido, stress or depression, trauma, associated incontinence;
Gynecomastia or loss of body hair;
Medications (and recent changes);
Medical history (hypertension, diabetes, high cholesterol, known atherosclerotic vascular disease, prior prostate surgery, liver
disease, thyroid disease, neurologic disease);
Smoking, alcohol, and drug use.
Considerable questions:
Sexual History
I would like to ask you some questions about your sexual health & practice!
Are you sexually active?
With men, women or both?
Tell me more about our sexual partner or partners?
How many sexual partners have you had in the past year?
Do you currently have one or more than one?
Do you use condoms or other contraceptives? Always?
Have you ever had STD?
Have you ever been tested for HIV?
Do you have any problem with sexual function?
Do you have any problem with erection?
72
AMENORRHEA
Differential Workup
Urine hCG
Pelvic exam
Pregnancy
U/S-transvaginal
CBC
Pelvic exam
Anovulatory cycle Urine hCG
"FSH and LH levels are normal" Transabdominal and transvaginal ultrasound
LH/FSH, TSH, prolactin
Pelvic exam
Urine hCG
Polycystic ovary syndrome
Transabdominal and transvaginal ultrasound
LH/FSH, TSH, prolactin
Menstrual irregularity for at least 3 consecutive months
Premature ovarian failure FSH and estradiol levels
"FSH and LH levels are elevated" Prolactin and TSH
Transabdominal and transvaginal ultrasound
ACTH
Pelvic exam
Pituitary infarction (Sheehan syndrome) Urine hCG
LH/FSH, prolactin
MRI-brain
Asherman syndrome Hysteroscopy
Menopause
"FSH and LH levels are elevated with LH/FSH, TSH, prolactin
menopause"
Urine hCG
CBC
Anorexia nervosa Electrolytes
TSH,FT4
LH/FSH
Pelvic and breast exams
Amenorrhea secondary to prolactinoma Urine hCG
Pituitary tumor
LH/FSH, TSH, prolactin
"FSH and LH levels are very low"
MRI-brain
Thyroid disease TSH,FT4
Transabdominal and transvaginal ultrasound
Ovarian or adrenal malignancy LH/FSH, TSH, prolactin
Testosterone, DHEAS
Key History
Primary versus secondary, duration, possible pregnancy;
Associated symptoms (headache, decreased peripheral vision, galactorrhea, hirsutism, virilization, hot flashes, vaginal dryness,
symptoms of thyroid disease);
History of anorexia nervosa, excessive dieting, vigorous exercise, pregnancies, D&Cs, uterine infections;
Drug use; medications.
73
Considerable questions:
Obstetric History
MLPA VPP
Menarche/Menopause
At what age did you have your first menstrual period?
LMP
When was the first day of your last menstrual period?
Period
How often do you get your menstrual period?
How long does it last?
How many pads/tampons do you use per day?
Abnormal Menses
Have you noticed any change in your period?
Do you have cramps?
Have you noticed any spotting between periods?
Vaginal Discharges
Do you have any vaginal discharges?
What is the color & smell of discharges?
Can you estimate the amount of your discharges?
Do you have pain during intercourse?
Do you have any problem controlling your bladder?
Parity
Have you ever been pregnant?
How many times?
How many children do you have?
Have you ever had a miscarriage or an abortion?
Pap
Have you had a Pap smear before?
74
Evaluation of Primary Amenorrhea
Pelvic examination
or ultrasonography
Karyotyping
Serum FSH Serum
testosterone
XX .46 XY .46
Increased Decreased Normal Female Normal Male
testosterone levels testosterone levels
Abnormal Androgen
Karyotyping Cranial MRI Mullerian insensitivity
development syndrome
Isolated amenorrhea with well-developed secondary sexual characteristics can be considered normal up to the age of 16.
However, if secondary sexual characteristics are absent, as with this patient, work-up should not be delayed beyond age 14.
The absence of breast development indicates a lack of estrogen, so measuring the estrogen level provides no additional
information.
Primary amenorrhea can be due to either
o Hypothalamic/pituitary (central) abnormalities, or
o Gonadal (peripheral) abnormalities.
This distinction can be made by measurement of the FSH level.
o Increased FSH (hypergonadotropic amenorrhea) indicates a peripheral cause, and
o Decreased FSH (hypogonadotropic amenorrhea) indicates a central cause.
If the amenorrhea is of central origin, a pituitary MRI is indicated to look for a lesion in the sella turcica.
If amenorrhea is of peripheral origin, Karyotyping would be the next step
75
VAGINAL BLEEDING
Differential Workup
Pelvic exam
Pap smear
CBC
Dysfunctional uterine bleeding PT/PTT
Coagulation disorder (e.g. Von Willebrand disease, hemophilia) Urine hCG
Hypothyroidism Cervical culture
ESR
LH/FSH, TSH, prolactin
U/S-pelvis
UrinehCG
Spontaneous abortion Pelvic exam
Ectopic pregnancy Quantitative serum hCG
Molar pregnancy U/S-abdomen/ pelvis
Ovarian torsion CBC
Pelvic inflammatory disease PT/PTT
Cervical cultures
Cervicitis Pelvic exam
Cervical polyp Pap smear
Cervical cancer Colposcopy and biopsy
Atrophic vaginitis HPV testing
Trauma (e.g. cervical laceration) Endometrial biopsy
Pelvic exam
Pap smear
Atrophic endometrium
Endometrial biopsy
Endometrial hyperplasia
Endometrial curettage
Endometrial polyps
U/S-pelvis
Endometrial cancer
Colposcopy
Hydro-ultrasonography
Key History
Last menstrual period;
Pre-, peri-, postmenopausal status;
Duration, amount;
Menstrual history;
Associated discharge;
Pelvic or abdominal pain;
Urinary symptoms;
Trauma;
Medications or contraceptives;
History of easy bleeding or bruising;
History of abnormal Pap smears;
Prior episodes;
Pregnancy history.
76
VAGINAL DISCHARGE
Differential Workup
Bacterial vaginosis
o Thin, grayish-white, foul-smelling vaginal discharge.
Vaginitis-candidal Pelvic exam
o Thick, white, cottage cheese-like, odorless vaginal discharge and vaginal itching Wet mount, KOH prep, "whiff
test"
Vaginitis-trichomonal pH of vaginal fluid
o Malodorous, profuse, frothy, greenish vaginal discharge with intense vaginal Cervical cultures
itching and discomfort
Cervicitis (chlamydia, gonorrhea)
Key History
Discharge amount, color, consistency, odor, duration;
Associated vaginal burning, pain, or pruritus;
Recent sexual activity;
Sexual history;
Onset of last menstrual period;
Use of contraceptives, tampons, and douches;
History of similar symptoms;
History of sexually transmitted infections.
77
DYSPAREUNIA
Differential Workup
Vulvodynia
Vaginismus
Pelvic exam
Atrophic vaginitis LH/FSH
Cervicitis Wet mount, KOH prep
Cervical cultures
Endometriosis U/S-pelvis
Pelvic inflammatory disease Laparoscopy
Endometrial biopsy
Domestic violence
Depression
Key History
Duration, timing;
Associated symptoms (vaginal discharge, rash, painful menses, GI symptoms, hot flashes);
Adequacy of lubrication, menopausal status, libido;
Sexual history, history of sexual trauma or domestic violence;
History of endometriosis, pelvic inflammatory disease, or prior abdominal/pelvic surgeries.
78
ABUSE
Differential Workup
Domestic violence
XR-skeletal survey
Osteogenesis
CT-maxillofacial
imperfecta
Urine toxicology
Substance abuse
1. Forensic exam (sexual assault forensic evidence [SAFE] collection kit)
2. Pelvic exam
3. Urine-βhCG
4. Wet mount, KOH prep
5. Cervical cultures
Rape
6. Chlamydia and gonorrhea testing
7. XR-skeletal survey
8. CBC
9. HIV antibody
10. Viral hepatitis serologies
Key History
Establish confidentiality;
Directly question about physical, sexual, or emotional abuse and about fear, safety, escape plan/backup plan;
History of frequent accidents/injuries, mental illness, drug use;
Question about if other family members are potentially involved (e.g. children, elders);
Firearms in the home.
Considerable questions:
Domestic Abuse
SAFE GARDS
Afraid of spouse?
Does anyone (your husband/wife/parents/boyfriend) treat you in a way that hurts you or threatens to hurt you?
Emergency plan
Guns/weapons at home
Alcohol/drug abuse
Suicidal ideation
79
JOINT/LIMB PAIN
Presentation Differential Workup
Wrist pain and a black eye after Domestic violence XR-wrist
tripping, falling, and hitting her head on Factitious disorder CT-head
the edge of a table Substance abuse Urine toxicology
Carpal tunnel syndrome
Median nerve compression in the Nerve conduction studies
Wrist pain and a sensation of numbness
forearm or arm EMG
and burning in her palm and the first,
Radiculopathy of nerve roots C6 U/S-wrist
second, and third fingers
and C7 in the cervical spine MRI-spine
De Quervain tenosynovitis
ANA, anti-dsDNA, Anti-Sm, ESR, C3,
C4, antiphospholipid antibodies
Systemic lupus erythematosus (SLE) RF, anti-CCP
Pain in the interphalangeal joints of her
Rheumatoid arthritis ESR,CRP
hands with hair loss and a rash on her
Psoriatic arthritis CBC
face.
Parvovirus B19 infection XR-hands
UA, urine sediment
Antibody titers for parvovirus B19
RF, anti-CCP
Rheumatoid arthritis ANA, anti-dsDNA, Anti-Sm, ESR, C3,
Pain in the metacarpophalangeal joints
SLE C4, antiphospholipid antibodies
of both hands. Her left knee is also
Disseminated gonorrhea CBC
painful and red. She has morning joint
Arthritis associated with Cervical culture
stiffness that lasts for an hour.
inflammatory bowel disease Arthrocentesis and synovial fluid
analysis
ESR, CRP, RF, anti-CCP, ANA
Pain in the interphalangeal joints of Psoriatic arthritis
CBC
both hands. He also has scaly, salmon- Rheumatoid arthritis
XR-hands
pink lesions on the extensor surface of SLE
XR-pelvis/ sacroiliac joints
his elbows and knees. Gout
Uric acid
Inability to use her left leg or bear weight XR-hip/ pelvis
on it after tripping on a carpet Hip fracture CT or MRI-hip
Her left leg is externally rotated, Hip dislocation CBC, type and cross
shortened, and adducted, and there is Pelvic fracture Serum calcium and vitamin D
tenderness in her left groin. Bone density scan (DEXA)
XR-hip
CT or MRI-hip
Pain in the right groin after a motor
CBC, type and cross
vehicle accident. Hip dislocation- traumatic
PT/PTT
His right leg is flexed at the hip, Hip fracture
Urine toxicology and blood alcohol
adducted, and internally rotated
level
U/S-abdomen (FAST exam)
XR-knee
Knee stiffness and pain that increases CBC
with movement. Her symptoms have Osteoarthritis ESR
gradually worsened over the past 10 Pseudogout Knee arthrocentesis and synovial
years. She has noticed swelling and Gout fluid analysis (cell count, Gram
deformity of the joint and is having Meniscal or ligament damage stain, culture, crystals)
difficulty walking. Uric acid
MRI-knee
80
JOINT/LIMB PAIN (Cont.)
Presentation Differential Workup
CBC
Septic arthritis Knee arthrocentesis and synovial
Gout fluid analysis (cell count, Gram stain,
Fevers and right knee pain with swelling Pseudogout culture, crystals)
and redness. Lyme arthritis Blood, urethral cultures
Trauma XR-knee
Reiter syndrome (reactive arthritis) Uric acid
Lyme titers-IgG and IgM
Stress fracture XR-foot
Right foot pain. He has been training for
Plantar fasciitis Bone scan-foot
a marathon.
Foot sprain or strain MRI-foot
Pain in the heel of the right foot that is
Plantar fasciitis
most notable with his first few steps XR-heel
Heel fracture
and then improves as he continues Bone scan-foot
Splinter/foreign body
walking.
Pain in the elbow when he plays tennis.
His grip is impaired as a result of the
pain. XR-arm
Tennis elbow (lateral epicondylitis)
There is tenderness over the lateral Bone scan
Stress fracture
epicondyle as well as pain on resisted MRI-elbow
wrist dorsiflexion (Cozen test) with the
elbow in extension
Knee arthrocentesis and synovial
Painful wrists and elbows, a swollen and
fluid analysis (cell count, Gram
hot knee joint that is painful on flexion, Disseminated gonorrhea
stain, culture)
a rash on her limbs, and vaginal Rheumatoid arthritis
Blood, cervical cultures
discharge. SLE
RF, anti-CCP, ESR
She is sexually active with multiple Reiter syndrome (reactive arthritis)
ANA, anti-dsDNA, CBC
partners and occasionally uses condoms
XR-knee
Peripheral vascular disease
(intermittent claudication)
Pain in both legs that is induced by Ankle-brachial index
Leriche syndrome (aortoiliac
walking and is relieved by rest. Doppler U/S-lower extremity
occlusive disease)
She had cardiac bypass surgery 6 months Angiography
Lumbar spinal stenosis
ago and continues to smoke heavily. MRI-L-spine
(pseudodaudication)
Osteoarthritis
Right calf pain. Her calf is tender, warm, DVT
Doppler U/S-right leg
red, and swollen compared to the left Baker cyst rupture
CBC
side. Myositis
CPK
She was started on OCPs 2 months ago Cellulitis
D-dimer
for dysfunctional uterine bleeding. Superficial venous thrombosis
ECG, troponin, CK-MB
CBC
Angina/MI
Left arm pain that started while she was XR-shoulder
Tendinitis
swimming and was relieved by rest. CXR
Osteoarthritis
Echocardiography
Stress test
Right shoulder pain after falling onto his
Shoulder dislocation XR-shoulder
outstretched hand while skiing.
Fracture of the humerus XR-arm
He noticed deformity of his shoulder
Rotator cuff injury MRI-shoulder
and had to hold his right arm.
CPK
Crampy bilateral thigh and calf pain, CBC
Rhabdomyolysis due to statins
fatigue, and dark urine. CMP, calcium, phosphate, uric add
Polymyositis
He is on simvastatin and clofibrate for Aldolase
Inclusion body myositis
hyperlipidemia. UA
Urine myoglobin
Key History
81
Location, quality, intensity, duration, pattern (small vs large joints; number involved; swelling, redness, warmth);
Associated symptoms (constitutional, red eye, oral or genital ulceration, diarrhea, dysuria, rash, focal numbness/weakness,
morning stiffness);
Exacerbating and alleviating factors;
Trauma (including vigorous exercise);
Medications;
DVT risk factors;
Alcohol and drug use;
Family history of rheumatic disease;
Skin rash or bruises.
Key History
Location, quality, intensity, radiation, onset (moving furniture, bending/twisting, trauma), timing (disturbs sleep);
Associated symptoms (especially constitutional symptoms, incontinence, focal muscle weakness);
Exacerbating and alleviating factors;
History of cancer, recurrent UTIs, diabetes, renal stones, IV drug use, smoking.
82
Joint Pain
Back Pain
Common causes of low back pain
Condition Clinical clues
• Normal neurologic examination
Mechanical
• Negative straight leg raise
(muscle strain, spasm, degenerative arthritis)
• Possible paraspinal tenderness
• Radiculopathy (usually L4-L5)
Herniated nucleus pulposus/ disk disease • Possible positive straight leg raise
• Possible neurologic deficits
Musculoskeleta
• Pseudoclaudication
l
• Better with spine flexion
Spinal stenosis
• Worse with extension
• Older age
• Older age
Compression fracture • More common in women
• Trauma/fall (may be minor)
• Better with activity or exercise
Ankylosing spondylitis, reactive arthritis, psoriatic arthritis, • No improvement with rest
Inflammatory
inflammatory bowel disease • Gradual onset
• HLA-B27 present
• History of malignancy
• Age >50
• Worse at night
Malignancy Metastatic cancer to bone • Unintentional weight loss
• Cauda equina syndrome
(weakness, urine retention/incontinence,
saddle anesthesia)
• Recent infection
• IV drug abuse
Infectious Osteomyelitis, discitis, abscess
• Diabetes
• Fever, exquisite point tenderness
Ankylosing spondylitis
• Insidious onset at age <40
Inflammatory • Symptoms >3 months
back pain • Relieved with exercise but not rest
• Nocturnal pain
• Arthritis (sacroiliitis)
• Reduced chest expansion & spinal mobility
Examination
• Enthesitis (tenderness at tendon insertion sites)
findings
• Dactylitis (swelling of fingers & toes)
• Uveitis
• Osteoporosis/vertebral fractures
Complications • Aortic regurgitation
• Cauda equine syndrome
• Elevated ESR & CRP
Laboratory
• HLA-B27 association
• X-ray of sacroiliac joints
Imaging
• MRI of sacroiliac joints
83
Joint Pain (Cont.)
Knee Pain
Condition Clinical clues
Asymptomatic bulge behind knee that diminishes with flexion
Popliteal (Baker) cyst
Posterior knee pain, swelling, stiffness
Subacute medial knee pain.
Anserine bursitis Examination shows a well-defined area of tenderness over the medial tibial
plateau below the joint line
Pain and swelling directly over the patella, usually following trauma.
Pre-patellar bursitis
Examination shows cystic swelling over the patella with variable signs of
"housemaid's knee"
inflammation
Stress fractures of the tibia Progressive pain at the shin and focal tenderness over the fracture site
Examination findings include tenderness at the medial joint line and valgus
Tears of the medial collateral ligament
laxity
Tears of the lateral collateral ligament Laxity of the knee with varus stress
Patients report a popping sound followed by acute pain.
Tears of the medial meniscus Typical examination findings include a small effusion and crepitus, locking,
or catching with range of motion
Pain: rapid onset, may be severe
A "popping" sensation at the time of injury
Significant swelling (effusion/hemarthrosis)
Anterior cruciate ligament injury
Joint instability
On examination: Anterior laxity of tibia relative to femur (anterior findings
drawer test, Lachman test)
Causes anterior knee pain and is most common in women.
Patients present with peripatellar pain worsened by activity or prolonged
sitting (due to sustained flexion) and may also have crepitus with motion of
Patellofemoral syndrome
the patella.
Patellofemoral compression test: pain over the anterior knee that is
reproduced by extending the knee while compressing the patella.
Causes episodic pain and tenderness at the inferior patella and patellar
tendon.
Patellar tendinitis
It is usually seen in athletes in jumping sports or in occupations with
repetitive forceful knee extension
Overuse injury
Characterized by pain at the lateral knee.
Iliotibial band syndrome
Examination shows tenderness at the lateral femoral condyle during flexion
and extension
Fractures of the patella Acute swelling, tenderness, and inability to extend the knee
Acute monoarthritis: hot, swollen, decreased ROM
Infectious (septic) arthritis Fever
Elevated ESR & CRP
Hyperparathyroidism → ↑ calcium
Acute pain, swelling, redness, and limited motion
pyrophosphate dehydrate (CPPD) →
Fatigue, constipation, nephrolithiasis
Pseudogout
84
85
Joint Pain (Cont.)
Septic arthritis
• Abnormal joint: OA, RA, prosthetic joint, gout
• Age >80
Risk
• Diabetes
factors
• IV drug abuse, alcoholism
• Intra-articular glucocorticoid injections
• Acute monoarthritis: hot, swollen, decreased ROM
Clinical
• Fever
features
• Elevated ESR & CRP
• Blood cultures
Diagnosis
• Synovial fluid analysis: leukocytosis (>50,000/mm3), Gram stain, culture
Initial • Gram-positive cocci: vancomycin
treatmen • Gram-negative rod: third-generation cephalosporin
t • Negative microscopy: vancomycin ( + third-generation cephalosporin if immunocompromised)
86
Joint Pain (Cont.)
Hip Pain
Condition Clinical clues
Hip pain when pressure is applied (as when sleeping) and with external rotation or
Trochanteric bursitis
resisted abduction
Slipped capital femoral epiphysis Obese male children during late childhood or early adolescence
Pain localized deep within the joint that may be referred to the inguinal area or
Hip osteoarthritis rarely to the knee.
Internal rotation of the hip worsens this pain
It is a complication of corticosteroid use, trauma, systemic lupus erythematosus,
Proximal femur avascular necrosis
sickle cell disease
Hip fracture Lower extremity is shortened and externally rotated
Compression of the lateral femoral cutaneous nerve at the waist.
Meralgia paresthetica
Burning pain and paresthesias at the lateral thigh
Aortoiliac peripheral vascular Buttock, thigh, or hip pain and claudication.
disease (Leriche syndrome) In men it may also cause erectile dysfunction
Cause referred pain to the posterior hip, thigh, and lower leg.
Impingement of the lumbar nerve
Hip mobility is normal, but patients may have exacerbation of pain on flexion of the
roots
hip with the knee extended (straight leg raise maneuver)
Shoulder pain
Common causes of shoulder pain
Condition Clinical clues
Rotator cuff • Pain with abduction, external rotation
impingement or • Subacromial tenderness
tendinopathy • Normal range of motion with positive impingement tests (e.g. Neer, Hawkins)
• Similar to rotator cuff tendinopathy
Rotator cuff tear • Weakness with external rotation
• Age >40
Adhesive capsulitis • Decreased passive & active range of motion
(frozen shoulder) • More stiffness than pain
Biceps • Anterior shoulder pain
tendinopathy/ruptur • Pain with lifting, carrying, or overhead reaching
e • Weakness less common
• Uncommon & usually caused by trauma
Glenohumeral
• Gradual onset of anterior or deep shoulder pain
osteoarthritis
• Decreased active & passive abduction & external rotation
Cervical radiculopathy: pain and paresthesias of the neck and arm along with upper extremity
weakness
Referred pain Diaphragmatic irritation (e.g. intrathoracic tumor),
Myocardial ischemia, or
Hepatobiliary disease (e.g. gallstones)
87
Joint Pain (Cont.)
Elbow Pain
Condition Clinical clues
Lateral elbow pain
History of repetitive or forceful wrist extension
Lateral epicondylitis (Tennis or
Tenderness at epicondyle & proximal extensor muscles
Golf Elbow)
Pain with resisted wrist extension or supination
Pain with passive wrist flexion
Posterolateral elbow pain similar to that in lateral epicondylitis.
Weakness of extension at the wrist and third digit,
Radial tunnel syndrome
Reproduction of pain on resisted supination of the forearm, and pain at the radial
tunnel on resisted hyperextension of the wrist
Due to repetitive pressure or friction on the elbows.
Olecranon bursitis
Posterior elbow pain and is usually associated with visible swelling of the bursal sac
Osteoarthritis involving the
Chronic pain, and most patients have crepitus and limited range of motion
humeroulnar joint
Pain at the neck and upper arm.
Cervical radiculopathy
It worsens with changes in neck position
Wrist Pain
Condition Clinical clues
Pain & paresthesias in median nerve distribution (first 3 & 1/2 digits)
Carpal tunnel syndrome Positive Phalen & Tinel tests
Severe disease: Weakness of thumb abduction & opposition, atrophy of thenar eminence
Gout Exquisitely painful and generally affects the great toes, ankles, wrists, and elbows
Tenderness can typically be elicited with direct palpation of the radial side of the wrist at
De Quervain tenosynovitis the base of the hand.
Finkelstein test is positive
Scaphoid fractures Pain typically localizes to the anatomic snuffbox
Flexor carpi radialis
Pain with radial flexion of the wrist and point tenderness over the trapezium
tenosynovitis
88
Joint Pain (Cont.)
Foot & Ankle
Overview of running injuries of the foot & ankle
Injury Clinical features
• Insidious onset
• Focal pain in navicular or metatarsals
Stress • Risk factors:
fracture 0 Abrupt increase in intensity of training,
0 Poor running mechanics,
0 Female with eating disorder
Plantar • Plantar surface of the heel
fasciitis • Worse when initiating running or first steps of the day
Achilles
tendinopath • Burning pain or stiffness 2-6 cm above the posterior calcaneus
y
Morton • Numbness or pain between the 3rd & 4th toes
neuroma • Clicking sensation when palpating space between 3rd & 4th toes while squeezing the metatarsal joints
Tarsal tunnel • Compression of the tibial nerve at the ankle
syndrome • Burning, numbness & aching of the distal plantar surface of the foot/toes
Arthritis
Condition Clinical clues
Chronic inflammatory arthritis, most commonly affecting the metacarpophalangeal (MCP)
joints.
Rheumatoid arthritis
Findings include stiffness and doughy swelling of the joints.
Classically, no involvement of DIP joints
Produce Heberden and Bouchard nodes, which are hard, bony nodules over the distal and
Severe osteoarthritis proximal interphalangeal joints, respectively
No involvement of MCP joints
Age >50
Bilateral pain & morning stiffness >1 month
Involvement of 2 of following:
Polymyalgia rheumatica o Neck or torso
o Shoulders or proximal arms
o Proximal thigh or hip
o Constitutional (fever, malaise, weight loss)
SLE Malar rash, metacarpophalangeal synovitis
Exocrine features:
o Keratoconjunctivitis sicca
o Dry mouth, salivary hypertrophy
o Xerosis of skin
Sjögren syndrome Extraglandular features:
o Raynaud phenomenon
o Cutaneous vasculitis
o Arthralgia/arthritis
o Interstitial lung disease
Purulent arthritis without skin lesions
OR
Disseminated gonococcal Triad of:
infection (DGI) Tenosynovitis (eg, wrist, ankles, fingers & knees)
Dermatitis (pustules, macules, papules & bullae)
Migratory asymmetric polyarthralgia without purulent arthritis
89
Joint Pain (Cont.)
Arthritis (Cont.)
Condition Clinical clues
Joints (migratory arthritis)
♥ (Carditis)
Acute rheumatic fever Nodules (subcutaneous)
Erythema marginatum
Sydenham chorea
Fever, arthralgias, sore throat, lymphadenopathy, mucocutaneous lesions, diarrhea, and weight
Acute HIV infection
loss
Caused by genitourinary infection with Chlamydia trachomatis or by certain gastrointestinal
Reactive arthritis infections.
It presents with a triad of arthritis, conjunctivitis, and urethritis
Distal interphalangeal joint arthritis, asymmetric oligoarthritis, symmetric polyarthritis,
Psoriatic arthritis spondyloarthropathy, or aggressively destructive arthritis mutilans.
Most patients have established psoriasis, and nail changes (eg, pitting) are common
Lyme disease Early skin rash (erythema migrans), followed by arthritis, typically monoarticular knee pain
Hereditary Hyperpigmentation (bronze diabetes)
hemochromatosis Arthralgia, arthropathy & chondrocalcinosis
Acute, symmetrical arthralgia/arthritis usually in the hands, wrists, knees & feet (resembles
parvovirus B19 infection
RA)
Polyarthritis affecting the ankles and knees
Cough, chest pain, and dyspnea.
Sarcoidosis
Cutaneous manifestations: erythema nodosum; multiple tender pink to reddish nodules below
the knee
Systemic: Fatigue, weakness
Skin: Telangiectasia, sclerodactyly, digital ulcers, calcinosis cutis
Systemic sclerosis
Extremities: Arthralgias, contractures, myalgias
(scleroderma)
Gastrointestinal: Dysphagia, dyspepsia
Vascular: Raynaud phenomenon
Female, Asian, Age 10-40
Constitutional (eg, fever, weight loss)
Takayasu arteritis
Arterio-occlusive (eg, claudication, ulcers) in upper extremities
Arthralgias/myalgias
History of chronic malabsorptive diarrhea (steatorrhea, flatulence, abdominal distention),
Protein-losing enteropathy,
Weight loss,
Whipple disease Migratory non-deforming arthritis,
Lymphadenopathy and a
Low-grade fever.
The disease may also cause damage to the eye, CNS and myocardium
90
Joint Pain (Cont.)
Clinical features of rheumatoid arthritis
Symptoms
• Insidious onset, multiple joint pain, stiffness & swelling
• Morning stiffness lasting hours, improves with activity
• Small joints (eg, PIP, MCP, MTP) commonly involved
• Monoarthritis (eg, knees, elbows) can also occur later
Clinical
• Spares the DIP joint, unlike osteoarthritis
presentation
Examination
• Affected joints are tender to the touch, swollen, with limited range of motion
• Tenosynovitis of the palms → "trigger finger"
• Rheumatoid nodules (especially on elbows)
• Cervical joint involvement can lead to spine subluxation → spinal cord compression
• Positive anti-CCP antibodies (diagnostic testing)
Laboratory/
• High lgM rheumatoid factor
imaging
• High C-reactive protein & ESR correlate with disease activity
studies
• X-ray: Soft-tissue swelling, joint space narrowing & bony erosions
• Felty syndrome: anemia, neutropenia, splenomegaly, and RA.
• Juvenile RA: begins before 18 years of age.
Variants of RA
Extra-articular manifestations may predominate (Still disease) or arthritis may predominate.
• Caplan syndrome: RA associated with pneumoconiosis.
Anti-CCP = anti-cyclic citrullinated peptide; DIP = distal interphalangeal joints; ESR = erythrocyte sedimentation rate;
lgM = Immunoglobulin M; MCP = metacarpophalangeal; MTP = metatarsophalangeal
Polymyalgia rheumatica
Clinical features Findings
• Age >50
• Bilateral pain & morning stiffness >1 month
• Involvement of 2 of following:
Symptoms o Neck or torso
o Shoulders or proximal arms
o Proximal thigh or hip
o Constitutional (fever, malaise, weight loss)
Physical
• Decreased active ROM in shoulders, neck & hips
examination
• ESR >40 mm/h, sometimes >100 mm/h
Laboratory • Elevated CRP
studies • Normocytic anemia possible
• ~20% can have normal studies
Treatment Response to glucocorticoids
CRP= C-reactive· protein; ESR =erythrocyte sedimentation rate; ROM = range of
91
motion
Joint Pain (Cont.)
Sjögren syndrome
• Keratoconjunctivitis sicca
Exocrine
• Dry mouth, salivary hypertrophy
features
• Xerosis of skin
• Raynaud phenomenon
Extraglandular • Cutaneous vasculitis
features • Arthralgia/arthritis
• Interstitial lung disease
• Objective signs of decreased lacrimation (e.g. Schirmer test)
• Positive anti-Ro (SSA) &/or anti-La (SSB)
Diagnostic
• Salivary gland biopsy with focal lymphocytic sialoadenitis
findings
• Classification: primary if no associated CTD,
secondary if comorbid CTD (e.g. SLE, RA, scleroderma)
CTD = connective tissue disease; RA = rheumatoid arthritis; SLE = systemic lupus
erythematosus;
SSA/SSB = Sjögren syndrome.
92
Joint Pain (Cont.)
Takayasu arteritis
• Female
Risk factors • Asian
• Age 10-40
• Constitutional (e.g. fever, weight loss)
Symptoms • Arterio-occlusive (e.g. claudication, ulcers) in upper extremities
• Arthralgias/myalgias
• Blood pressure discrepancies
Examination
• Pulse deficits
findings
• Arterial bruits
• Elevated inflammatory markers (e.g. ESR, CRP)
Diagnosis • Chest x-ray: Aortic dilation, widened mediastinum
• CT/MRI: Wall thickening, narrowing of lumen
Treatment • Systemic glucocorticoids
93
Joint Pain (Cont.)
Clinical features of parvovirus B19 infection
1. Up to 75% of patients are asymptomatic or have flulike symptoms
Signs & 2. Erythema infectiosum (fifth disease); more common in children with fever, nausea & a malar rash on the
symptom cheeks
s 3. Acute, symmetrical arthralgia/arthritis usually in the hands, wrists, knees & feet (resembles RA)
4. Transient aplastic anemia in patients with a history of hematologic disease (eg, sickle cell)
• Acute infection
o B19 lgM antibodies in immunocompetent
Diagnosis o NAAT in immunocompromised
• Previous infection by B19 lgG antibodies (documents immunity)
• Reactivation of previous infection by NAAT to detect B19 DNA
NAAT =nucleic acid amplification testing
94
Joint Pain (Cont.)
Myopathies and Pain Syndromes
Distinguishing features of fibromyalgia, polymyositis & poly myalgia rheumatica
Clinical features Diagnosis
Young to middle-aged women
Chronic widespread pain ≥3 months of symptoms with widespread pain
Fibromyalgi
Fatigue, impaired concentration severity score index or symptom
a
Tenderness at trigger points (eg, mid trapezius, Normal laboratory studies
costochondral junction)
Elevated muscle enzymes ( e.g. creatine kinase,
Proximal muscle weakness (eg, increasing difficulty aldolase, AST)
Polymyositis climbing-upstairs) Autoantibodies (ANA, anti-Jo-1)
Pain mild/absent Biopsy: Endomysial infiltrate, patchy necrosis
Weakness > pain
Age >50
Elevated ESR, C. reactive protein
Poly myalgia Systemic signs & symptoms
Rapid improvement with glucocorticoids
rheumatica Stiffness > pain in shoulders, hip girdle, neck
Pain > weakness
Association with giant cell (temporal) arteritis
Para neoplastic
Involved site Clinical features
syndrome
Fluctuating muscle weakness
Acetylcholine receptor
Myasthenia • Ocular (ptosis, diplopia)
in postsynaptic
gravis • Bulbar (dysphagia, dysarthria)
membrane
• Facial, neck & limb muscles
• Proximal muscle weakness
Presynaptic membrane
Lambert-Eaton • Autonomic dysfunction (e.g. dry mouth)
voltage-gated calcium
syndrome • Cranial nerve involvement (e.g. ptosis)
channels
• Diminished or absent deep-tendon reflexes
• Symmetrical & more proximal muscle weakness
• Interstitial lung disease, esophageal dysmotility,
Dermatomyositis/ Raynaud phenomenon
Muscle fiber injury
polymyositis • Polyarthritis
• Esophageal dysmotility
• Skin findings (eg, Gottron papules, heliotrope rash) in dermatomyositis
Polymyositis
Clinical • Symmetrical proximal muscle weakness
presentation • No/mild pain or muscle tenderness
• Elevated muscle enzymes (e.g. CK, aldolase)
Diagnostic
• Autoantibodies (e.g. ANA, anti-Jo-1)
tests
• Biopsy: Endomysial mononuclear infiltrate, patchy necrosis
• Interstitial lung disease
Associated
• Myocarditis
conditions
• Malignancy
• Systemic glucocorticoids
Treatment
• Glucocorticoid-sparing agents (e.g. methotrexate, azathioprine)
ANA= antinuclear antibodies; CK = creatine kinase
95
Joint Pain (Cont.)
Clinical features of dermatomyositis
Muscle • Proximal, symmetric
weakness • Weakness in UE = LE
• Gottron's papules: Violaceous, slightly scaly papules overlying knuckles, elbows, and knees joints
Skin findings
• Heliotrope rash: violaceous poikiloderma eruption in the face accompanied by periorbital edema
Extramuscula • Interstitial lung disease
r • Dysphagia
findings • Myocarditis
• ↑ CPK, aldolase, LDH
• Anti-RNP ,anti-Jo-1, anti-Mi2
Diagnosis • Diagnostic uncertainty
o EMG
o Biopsy (skin/muscle)
• High-dose glucocorticoids PLUS glucocorticoid-sparing agent
Management
• Screening for malignancy
Pediatric Limping
Condition Clinical clues
Pain at night & resolves by morning
Growing pains
Affects lower extremities (e.g. thighs, calves), usually bilateral
Legg-Calve-Perthes disease
Affects boys age 4-10 years
Idiopathic osteonecrosis (avascular necrosis)
Mild chronic hip or knee pain of insidious onset as well as an antalgic gait
of the femoral head
Obese adolescents
Slipped capital femoral epiphysis
Presents with limp and insidious hip pain
Traction on the apophysis of the tibial tubercle
Osgood-Schlatter disease Edema and tenderness over the tibial tubercle
Pain can be reproduced by extending the knee against resistance
Boys age 3-10 years
Hip pain, decreased range of motion, and limping
Transient synovitis
On examination, the affected hip is typically flexed, slightly abducted, and
externally rotated
Acute fever and inability to bear weight as well as pain, swelling,
Septic arthritis
erythema, and warmth of a single joint
Most commonly affects the metaphysis of long bones such as the
Osteomyelitis humerus, tibia, and femur.
Child is ill with fever and systemic symptoms
Craniotabes ("ping-pong ball" skull)
Delayed fontanel closure
Enlarged
Vitamin D deficiency rickets o Skull (frontal bossing)
o Costochondral joints ("rachitic rosary'')
o Long-bone joints (wrist widening)
Genuvarum (femoral and tibial "bowing")
Growing pains
• Children age 2-12 years
Clinical • Occurs primarily at night & resolves by morning
Features • Affects lower extremities (e.g. thighs, calves), usually bilateral
• Normal physical examination & activity
Treatmen • Parental education & reassurance
t • Massage, stretching exercises, heat & analgesics
96
Joint Pain (Cont.)
Vitamin D deficiency rickets
• Increased skin pigmentation
• Exclusive breastfeeding
Risk factors
• Inadequate sun exposure
• Maternal vitamin D deficiency
• Craniotabes ("ping-pong ball" skull)
• Delayed fontanel closure
• Enlarged
Clinical
• Skull (frontal bossing)
manifestations
• Costochondral joints ("rachitic rosary'')
• Long-bone joints (wrist widening)
• Genuvarum (femoral and tibial "bowing")
• Osteopenia
X-ray features • Metaphyseal cupping & fraying (Q)مهترئ
• Epiphyseal widening
• Calcium: Normal to ↓
Serum • Phosphorous: Normal to ↓
laboratory • Alkaline phosphatase: ↑↑
findings • Parathyroid hormone: ↑
• 25-OH vitamin D: ↓
Other
Paget disease of bone
• Most patients are asymptomatic
• Bone pain & deformity
Clinical o Skull: Headache, hearing loss
features o Spine: Spinal stenosis, radiculopathy
o Long bones: Bowing, fracture, arthritis of adjacent joints
• Giant cell tumor, osteosarcoma
Pathogenesi • Osteoclast dysfunction
s • Increased bone turnover
• Elevated alkaline phosphatase
Laboratory
• Elevated bone turnover markers (eg, PINP, urine hydroxyproline)
testing
• Calcium & phosphorus are usually normal
• X -ray: Osteolytic or mixed lytic/sclerotic lesions
Imaging
• Bone scan: Focal increase in uptake
Treatment • Bisphosphonates
PINP = procollagen type I N propeptide
97
CHILD WITH FEVER
Presentation Differential Workup
Neonatal sepsis CBC
20-day-old M presents with fever, Meningitis Electrolytes
decreased breast-feeding, and lethargy. Blood culture
He was born at 36 weeks as a result of Pneumonia LP-CSF analysis
premature rupture of membranes CXR
Pyelonephritis
UA, urine culture
3 yo M presents with a 2-day history of Acute otitis media
fever and pulling on his right ear. He is URI CBC, blood culture
otherwise healthy, and his
Meningitis LP-CSF analysis
immunizations are up to date. His older
UA, urine culture
sister recently had a cold. The child
attends a day care center. Pyelonephritis
Key History
Severity, duration;
Associated localizing symptoms such as rash, wheezing, cough, runny nose, and ear discharge;
Poor appetite, convulsions, lethargy, sleepiness;
Sick contacts, day care, immunizations.
98
History Taking Pediatric Sheet
Review of Systems (ROS)
CUB FEVERS:
Cold
Urination
Bowel changes
Fever
Ear pulling
Vomiting
Ear/eye discharges
Rash
Seizures
Antenatal History:
Was your pregnancy full term (40 weeks or 9 months)?
Did you have routine checkups during your pregnancy? How often?
Did you have any complications during your pregnancy/during your delivery/after delivery?
Was an ultrasound performed during your pregnancy?
Did you smoke, drink, or use drugs during your pregnancy?
Was it a vaginal delivery or a C-section?
Did your child have any medical problems after birth?
When did your child have his first bowel movement?
Growth and development:
When did your child first smile? (normally: 0-6 ms)
When did your child first sit up? (normally: 9-12 ms)
When did your child start crawling? (normally: 9-12 ms)
When did your child start talking? (normally: 9-12 ms)
When did your child start walking? (normally: 12-18 ms)
When did your child learn to dress himself? ( with help: 2-3 ys; alone: 3-4 ys)
When did your child start using short sentences? (normally: 18 ms – 2 ys)
Feeding history:
Did you breast-feed your child?
When did your child start eating solid food?
How is your child’s appetite?
Does your child have any allergies?
Is your child’s formula fortified with iron?
Are you giving your child pediatric multivitamins?
Routine pediatric care:
Are your child’s immunizations up to date?
When was the date of your child’s last routine checkup?
Has your child had any serious illnesses?
Is your child taking any medications?
Has your child ever been hospitalized?
99
Clinical Manifestations of Neonatal Sepsis
(including meningitis)
• Temperature instability (fever >38 C [100.4 F] or hypothermia <36 C [96.8 F])
Present in >50% of cases • Poor feeding
• Irritability or lethargy
• Respiratory distress
Present in 25%-50% of • Vomiting
cases • Seizures
• Jaundice
• Apnea
Present in <25% of cases • Cyanosis
• Bulging fontanelle
Neonatal Conjunctivitis
Onset
Type Findings Treatment
age
Mild conjunctival irritation/injection & tearing after silver nitrate ophthalmic
Chemical <24 hr Eye lubricant
prophylaxis
Ceftriaxone (IV/IM)
Gonococca
2-5 days Marked eyelid swelling; profuse purulent discharge; corneal edema/ulceration or
l
Cefotaxime (IV/IM)
Chlamydial 5-14 days Eyelid swelling; chemosis; watery, bloody, or mucopurulent eye discharge Oral erythromycin
100
Herpangina versus Herpetic Gingivostomatitis
Diagnosis Herpangina Herpetic gingivostomatitis
Etiology Coxsackie A virus Herpes simplex virus type 1
Age 3 -10 years 6 months - 5 years
Seasonalit
Summer/early fall None
y
• Fever
• Fever
• Pharyngitis
Clinical • Pharyngitis
• Gray vesicles/ulcers on posterior
features • Erythematous gingiva
oropharynx
• Clusters of small vesicles on anterior oropharynx
• Nontender cervical lymphadenopathy
Treatment Supportive management Oral acyclovir
Croup (laryngotracheitis)
Pathogenesis • Parainfluenza viral infection – inflammation of larynx & trachea
Epidemiolog • Age 6 months to 3 years
y • Fall, early winter
• Inspiratory stridor
Clinical
• "Barky," seal-like cough
features
• Hoarse voice
• Mild (no stridor at rest): corticosteroids
Treatment
• Moderate/severe (stridor at rest): corticosteroids + nebulized epinephrine
Pertussis
• Catarrhal (1-2 weeks): Mild cough, rhinitis
Clinical
• Paroxysmal (2-6 weeks): Cough with inspiratory "whoop," post-tussive emesis
phases*
• Convalescent (weeks to months): Symptoms resolve gradually
• Pertussis culture or PCR
Diagnosis
• Lymphocyte-predominant leukocytosis
Treatment • Macrolides
Prevention • Acellular pertussis vaccine
*Infants may present with apnea
101
Acute Bacterial Rhinosinusitis
The most commonly implicated organisms
o Streptococcus pneumoniae (~30%),
Microbiology
o nontypeable Haemophilus influenzae (~30%), and
o Moraxella catarrhalis (~10%)
Symptoms:
o Nasal drainage, congestion, and cough
Signs:
Clinical Features o Patients appear ill
o High fevers (>39° C [102.2° F)) and
o Purulent nasal drainage
o Nasal turbinates are red and swollen
• Persistent symptoms ≥10 days without improvement
OR
Diagnostic Features • Severe symptoms, fever ≥39 C (102 F), purulent nasal discharge, or face pain ≥3 days
OR
• Worsening symptoms ≥5 days after initially improving viral upper respiratory infection
102
Congenital Immunodeficiency
X-linked (Bruton) Severe combined
Chronic granulomatous disease Wiskott-Aldrich Syndrome
agammaglobulinemia (XLA) immunodeficiency (SCID)
X-linked defective Mutation in WAS gene encoding
common gamma chain Deficiency in NADPH oxidase Wiskott-Aldrich Syndrome protein
Autosomal recessive Impaired phagocytosis WATER
Defect in Bruton tyrosine Wiskott
Pathogenesi adenosine deaminase Recurrent, severe infections due to catalase-
kinase (BTK)
s deficiency positive bacterial (e.g. Staphylococcus Aldrich
Defective maturation of B-cells
Profound lymphopenia, aureus, Serratia) and fungal (e.g. Aspergillus) Thrombocytopenic purpura
Recurrent infections, and organisms Eczema
Failure to thrive Recurrent infections
Symptoms
Symptoms o Often appear in first year of life with
o Symptoms present recurrent pyogenic infections
before 3 months of o Recurrent infection with catalase- Recurrent bacterial, viral, fungal
age infections
Symptoms positive organisms
o Failure to thrive Pneumonias o Bacterial agents Strep. pneumonia,
o Recurrent infections after H. influenza, and N. meningitides
6 months of age o Recurrent bacterial, Aspergillosis
viral, fungal, and Skin abscesses o Viral agents Varicella and CMV
o Increased susceptibility to
encapsulated bacteria
protozoal infections Pulmonary abscesses o Fungal infections Candida albicans
Presentation Chronic diarrhea
(SHiN) and blood-borne o Chronic diarrhea
Ear infections
Thrombocytopenia
viruses Physical exam Recurrent bleeding, especially in first
Osteomyelitis
Physical exam o Thrush in mouth days of life ,petechiae, purpura, easy
o Failure to thrive bruising, hematemesis, epistaxis,
o Absent/scant lymphoid and diaper area Physical exam hematuria
tissues o Eczematous o Short stature Cronic eczema
dermatitis Hepatosplenomegaly common
o Eczematoid dermatitis
o Absent lymphatic
tissue o Hepatomegaly
o Lymphadenopathy
Chest radiography
no thymic shadow
Normal or ↓ lymphocyte
Flow cytometry reduction of dihydro- ↓ number of T- and B-cells
↓ all classes of Ig count
rhodamine ↓ to normal IgG and IgM
Studies ↓ levels of B-cells ↓ immunoglobulin levels
Nitroblue tetrazolium dye reduction test ↑ IgE and IgA
Normal T-cells Flow cytometry
↑ IgG, IgM Thrombocytopenia
Absent T-cells
Abnormal function
of B-cells
103
104
Congenital Immunodeficiency (Cont.)
Hyper-IgE Syndrome Common Variable Immunodeficiency
IgA Deficiency Hyper-IgM syndrome
Job syndrome Disorder (CVID)
Most common primary
Pathogenesi Defect in the JAK-STAT pathway Deficient expression of CD40L Decrease in all immunoglobulins (Ig),
immunodeficiency
s Defective neutrophil chemotaxis on activated T-helper cells especially IgG and IgM or IgA
Cause is unknown
Symptoms
o FATED
Coarse Facies
Cold staphylococcal
Symptoms Symptoms
Abscesses Symptoms
Retained primary o Most = asymptomatic o Recurrent pyogenic
o Severe pyogenic infections
Teeth o Sinus and lung infections
early in life
sinopulmonary and
↑ IgE gastrointestinal infections
Strep. pneumoniae and
Dermatological other encapsulated
o Chronic diarrhea o Permanent damage to the lungs
problems bacteria o Opportunistic infections, Bronchiectasis
Presentation
o Recurrent upper respiratory o GI infections such as recurrent o Malignancies
infections pneumonia
Giardiasis o Persistent diarrhea
Physical exam Increased risk for
o Severe allergies Giardia lamblia
o Eczematoid rash similar to o Hyperviscosity syndrome
atopic dermatitis
o Atopic dermatitis
(elevated levels of IgM)
Physical exam
o Anaphylaxis with exposure to o Generalized lymphadenopathy
o Skin infections o Malignancies (HCC and
blood products containing IgA carcinoid tumor)
o Splenomegaly
Noninflamed
abscesses on the body
Cool to the touch
o Retained primary teeth
o coarse facies
↑ IgE
↓ B-cells that produce antibodies
Normal IgA, IgG, and IgM ↓ IgA (< 7 mg/dL)
Studies ↓ IgA, IgG, IgE, and ↑ IgM (plasma cells)
↑ eosinophils Normal IgG and IgM
↓ all immunoglobulin classes
↓ interferon- γ
105
CHILDHOOD RASH INFECTIONS
Hand-Foot-and-Mouth Disease
Measles (Rubeola) Rubella (German [3-day] measles) Chicken Pox (Varicella)
Coxsackievirus type A
Symptoms
o Low-grade fever
o Polyarthritis and polyarthralgia
Symptoms Physical exam
o Prodrome o Lymphadenopathy before the Symptoms
High-grade fever rash o Prodrome
Cough Postauricular Symptoms Flu-like illness
Conjunctivitis lymphadenopathy is classic o Fever and malaise Low-grade fevers
Coryza o Fine, pink, non-confluent Physical exam
May have a cough
o Rash maculopapular rash o Asynchronous vesicular rash
Malaise
Physical exam Starts on face and spreads o Painful oral lesions
Very itchy but not
Presentatio o Koplik spots to trunk and extremities
painful o Skin rash may be painful
n May be itchy
o Confluent maculopapular rash
Desquamates
Starts on the head and Physical exam
Starts in the head and Rash resolves in 3 days
trunk and spreads to the o Greyish-yellow vesicles or
neck and spreads extremities erythematous papules on the
o Petechial rash on soft palate Eventually develops a palms and soles
downward to trunk
(Forschheimer spots) crust
Initially blanching with o Vesicles and ulcers in oral
pressure in the first few o Orchitis mucosa and around the
days mouth
Excludes palms and soles Congenital rubella syndrome
o Lymphadenopathy Blueberry muffin
Cataracts
Deafness
Congenital heart disease
Measles-specific immunoglobulin M
or G Rubella-specific immunoglobulin M Tzanck smear Coxsackievirus-specific
Reverse transcriptase-polymerase or G Polymerase chain reaction immunoglobulin A
Studies
chain reaction Reverse transcriptase-polymerase Direct fluorescent antibody Viral culture
Biopsy of lymph node: Warthin- chain reaction staining
Finkeldey giant cells
106
CHILDHOOD RASH INFECTIONS (Cont.)
Roseola Infantum Erythema Infectiousum (Fifth Disease) Scarlet Fever
Human herpesvirus-6 (HHV-6) parvovirus B19 Streptococcus pyogenes
Symptoms
Symptoms Prodrome o Sore throat
o High fever for 3 days o Flu-like symptom
o Fever
o May have febrile seizures Pregnant women
Physical exam
o No upper respiratory symptoms o Hydrops fetalis and fetal death
o Strawberry tongue
o Adults
Presentatio
Temporally separated by rash o Circumoral pallor
Physical exam o Polyarthropathy: small joints (e.g., hands)
n o Diffuse blanching erythema
o Light pink, morbilliform rash that Children
o Erythema infectiosum
o Sandpaper-like rash with small papules
develops after the fever resolves
Spreads from the groin and
Blanching First rash appears as slapped cheeks
armpits and to the trunk and
Discrete, irregular macules and Subsequent rash is an erythematous maculopapular
extremities
papules rash on the trunk and limbs, which may appear
Spares the palms and soles
Lasts 2 days reticular or lacy
o The rash is followed by desquamation
Parvovirus-specific immunoglobulin M Rapid streptococcal testing
Studies Based on clinical presentation Polymerase chain reaction Throat culture may reveal streptococcal
Anemia pharyngitis
Impetigo
Type Non-bullous Bullous
• Staphylococcus aureus
Microbiology • Group A Streptococcus (S • S aureus
pyogenes)
• Painful non-pruritic pustules
• Rapidly enlarging flaccid bullae with yellow fluid
Clinical features • Honey-crusted lesions
• Cellarette of scale at periphery of ruptured lesions
• Fever is unusual
• Limited skin involvement: Topical antibiotics (e.g., mupirocin)
Treatment
• Extensive skin involvement: Oral antibiotics (e.g. cephalexin, dicloxacillin, clindamycin)
107
CHILD WITH GI SYMPTOMS
Presentation Differential Workup
1 mo infant is brought in because she Pyloric stenosis CBC
has been spitting up her milk for the past Partial duodenal atresia Electrolytes
10 days. The vomiting episodes have U/S-abdomen
increased in frequency and forcefulness. GERD Barium swallow
Emesis is nonbloody and nonbilious. The Gastroenteritis Esophageal pH probe
episodes usually occur immediately after Endoscopy
Hepatitis
breast-feeding. She has stopped gaining LFTs, alkaline phosphatase
weight. UTI UA, urine culture
Hirschsprung disease Rectal exam
Low-fiber diet Barium enema
Suction rectal biopsy
3 yo M presents with constipation. The Anal stenosis Anorectal manometry
child has had 1 bowel movement per
Hypothyroidism TSH, FT4
week since birth despite the use of stool
CBC
softeners. At birth, he did not pass Lead poisoning
Electrolytes
meconium for 48 hours. He has poor
Serum lead level
weight gain. There is a family history of
Anti-tissue
this problem.
Celiac disease transglutaminase,
antiendomysial and
total IgA antibodies
Intussusception
8 mo F presents with sudden-onset Appendicitis Rectal exam, stool for occult blood
colicky abdominal pain with vomiting.
Meckel diverticulum CBC
The episodes are 20 minutes apart, and
Electrolytes
the child is completely well between Volvulus
Contrast enema
episodes. She had loose stools several Gastroenteritis U/S-abdomen
hours before the pain, but her stools are
Enterocolitis CT-abdomen
now bloody.
Blunt abdominal trauma
Colic
108
Key History
Onset, location, quality, intensity, duration, radiation, timing (relation to meals);
Associated symptoms (constitutional, GI, cardiac, pulmonary, renal, pelvic);
Changes in weight, skin rash, bloody/mucoid stools, change in stool color;
Exacerbating and alleviating factors;
History of similar symptoms;
History of abdominal surgeries;
Medications;
Sick contacts, day care, immunizations.
109
Breastfeeding benefits & contraindications
Benefits Contraindications
Active untreated tuberculosis (mothers may
breastfeed after 2 weeks of anti-tuberculin therapy)
More rapid uterine involution & decreased Maternal HIV infection (in developed countries where
postpartum bleeding formula is readily available)
Materna Faster return to prepartum weight Herpetic breast lesions
l Improved child spacing Varicella infection <5 days prior to or within 2 days of
Improved maternal-infant bonding delivery
Reduced risk of breast & ovarian cancer Specific maternal medications
Chemotherapy or ongoing radiation therapy
Active abuse of street drugs or alcohol
Improved Immunity
Improved gastrointestinal function
Prevention of infectious diseases·
o Otitis media
Infant o Gastroenteritis Galactosemia
o Respiratory illnesses
o Urinary tract infections
Decreased risk of childhood cancer, type I diabetes
mellitus & necrotizing enterocolitis
Infantile colic
Definition Excessive crying for ≥3 hours a day, ≥3 days a week, over a period of ≥3 weeks in an otherwise healthy infant
First few weeks of life and resolves spontaneously by age 4 months.
Timing
Crying generally occurs at the same time of the day, typically early in the evening
Causes Unknown
Review feeding pattern to assess if there is overfeeding, underfeeding, or an inadequate burping technique.
Calming techniques include
Management Infant swing,
s Swaddling,
Minimizing environmental stimuli (e.g. quiet dark room), and
Holding and rocking the baby.
110
Constipation in children
• Initiation of solid food & cow's milk
Risk factors • Toilet training
• School entry
• Straining with passage of hard stools
Clinical presentation • Crampy abdominal pain
• ≤2 defecations/week
• Anal fissures
• Hemorrhoids
Complications • Encopresis
• Enuresis/urinary tract infections
• Vomiting
• Increase dietary fiber
• Limit cow's milk intake to <24 oz
Treatment
• Laxative (e.g. polyethylene glycol, mineral oil)
• +/- Suppositories, enema
Bilious Emesis
Stop Feeds ●
NG tube decompression ●
IV fluids ●
Abdominal X-ray
Hirschsprung
Meconium ileus Malrotation
disease
111
Lead Poisoning
Battery manufacturing, metallurgy, corrosion inhibition
Gun range
Sources of exposure Tableware containing lead
Drinking water (from lead plumbing or contaminated sources )
Antique or imported toys painted with lead-containing paint
Many children are asymptomatic and should be assessed for blood lead levels if they have risk
factors
Screening in high-risk pediatric Living in older housing under renovation or with peeling paint
populations Sibling or playmate with lead poisoning
Recent immigrant, refugee, or foreign adoptee
History of pica
Polyneuropathy, encephalopathy, headache, fatigue, muscle weakness,
paresthesias, delirium, seizures
Nervous
system
Paralysis of the radial or peroneal nerve (wrist/foot drop)
Cognitive impairment, memory loss
Acute encephalopathy: persistent vomiting, ataxia, seizures, coma
Kidneys Nephropathy, renal cell carcinoma
Red blood
Clinical features
cells Symptoms of anemia
112
Differential diagnosis of regurgitation & vomiting in infants
Diagnosis Clinical features Management
• Physiologic
• Reassurance
o Asymptomatic
• Positioning therapy
o "Happy spitter"
Gastroesophageal
• Pathologic (GERD) • Thickened feeds
reflux
0 Failure to thrive • Antacid therapy
0 Significant irritability • If severe, esophageal pH probe monitoring &
o Sandifer syndrome upper endoscopy
• Regurgitation/vomiting
Milk protein • Elimination of dairy & soy protein from diet
• Eczema
allergy • Switched to a hydrolyzed formula
• Bloody stools
• Projectile nonbilious vomiting
• Abdominal ultrasound
Pyloric stenosis • Olive-shaped abdominal mass
• Pyloromyotomy
• Dehydration, weight loss
113
Intussusception
Viral infections (e.g. Rota virus gastroenteritis)
Triggering Meckel's diverticulum,
factors Polyps and
Hematomas (Henoch-Schönlein purpura)
Symptoms
o Periodic pain associated with drawing the legs up toward the abdomen.
o Emesis may follow episodes of abdominal pain.
Clinical Picture o It is initially nonbilious but becomes bilious as the obstruction persists.
o Grossly bloody "currant jelly" stools.
Signs
o Palpable "sausage-shaped" mass in the right upper quadrant.
Workup Ultrasound: "target sign"
Air or water-soluble contrast is instilled through the rectum.
Management
Laparotomy is indicated if enema reduction is ineffective.
Meckel's diverticulum
Rule of 2s
• 2% prevalence
Epidemiology • 2:1 male-to-female ratio
• 2% are symptomatic at age 2
• Located within 2 feet of the ileocecal valve
• Asymptomatic incidental finding
• Painless hematochezia
Clinical presentation • Intussusception
• Intestinal obstruction
• Volvulus
Diagnosis Technetium-99m pertechnetate scan
Treatment Surgery for symptomatic patients
114
Breastfeeding failure jaundice vs breast milk jaundice
Diagnosis Timing Pathophysiology Clinical features
Lactation failure resulting in: Suboptimal
Breastfeeding breastfeeding
First week of life • Decreased bilirubin elimination
failure jaundice Signs of
• Increased enterohepatic circulation dehydration
Adequate
Starts at age 3-5 High levels of β-glucuronidase in breast milk
breastfeeding
Breast milk jaundice days; peaks at 2 deconjugate intestinal bilirubin & increase
Normal
weeks enterohepatic circulation
examination
Biliary atresia
Initially well-appearing, followed by development of the following over 1-8 weeks:
• Jaundice
Clinical • Acholic (pale) stools or dark urine
features • Hepatomegaly
• Conjugated hyperbilirubinemia
• Mild elevation in transaminases
• Ultrasound: absent or abnormal gallbladder
• Hepatobiliary scintigraphy: failure of tracer excretion
Diagnosis • Liver biopsy: expanded portal tracts with bile duct obstruction & proliferation; portal tract edema,
fibrosis & inflammation
• Intraoperative cholangiogram (gold standard): biliary obstruction
• Hepato-porto-enterostomy (Kasai procedure)
Treatment
• liver transplant
115
Celiac disease
• First-degree relative with celiac disease
• Autoimmune thyroiditis
Risk
• Type I diabetes
factors
• Down syndrome
• Selective lgA deficiency
• Gastrointestinal
o Abdominal pain
o Nausea &/or vomiting
o Diarrhea (rarely, constipation)
Symptoms o Flatulence & bloating
• Extraintestinal
o Short stature & weight loss
o Iron deficiency anemia
o Dermatitis herpetiformis
• ↑ Tissue transglutaminase lgA
Diagnosis • ↑ Anti -endomysial antibodies
• Duodenal biopsy showing ↑ intraepithelial lymphocytes & flattened villi
116
CHILD WITH RED EYE
Presentation Differential Workup
Bacterial conjunctivitis
3 yo F presents with a 3-day history of Viral conjunctivitis Ophthalmoscopic eye exam
"pink-eye". It began in the right eye but CBC
Allergic conjunctivitis
now involves both eyes. She has mucoid Electrolytes
discharge, itching, and difficulty opening Keratitis
Discharge cultures
her eyes in the morning. Her mother had Uveitis Slit lamp exam
the flu last week. She has a history of
asthma and atopic dermatitis. Orbital cellulitis CT-orbit
Preseptal cellulitis
Key History
Onset, location, duration, affecting one or both eyes;
Eye discharge, itching, pain, photophobia, tearing;
Associated symptoms (constitutional, dermatologic, GI, cardiac, pulmonary, renal, pelvic, rheumatologic);
Exacerbating and alleviating factors;
Medications;
Sick contacts, day care, immunizations;
History of similar symptoms.
117
CHILD WITH SHORT STATURE
Presentation Differential Workup
Constitutional short stature CBC with differentials
14 yo M presents with short stature and Growth hormone (GH) deficiency Electrolytes
lack of sexual development. His birth GH stimulation test
weight and length were normal, but he is Hypothyroidism
IGF-l, IGFBP-3 levels
the shortest child in his class. His father Chronic renal insufficiency
TSH, FT4
and uncles had the same problem when
they were young, but they are now of XR-hand
normal stature. Genetic causes U/S-renal and cardiac
BUN/Cr
Key History
Associated symptoms (constitutional, GI, cardiac, pulmonary, renal, pelvic, endocrine);
Medications;
Prenatal and birth history, growth history;
Past medical history;
Family history;
Cognitive abilities, school performance.
118
Normal growth in infants and young children
Early Developmental Milestones
Cognitive Self-care
Gross motor milestones Fine motor milestones Social milestones Language milestones
milestones milestones
Eyes follow Social smile
2nd Raises chest and shoulders (in
N/A objects past Recognizes mother's Coos N/A
month prone position)
midline voice
Rolls over from front to back
Props himself/herself up on Reaches for Localizes sound (turns
4th
Shakes rattle when Smiles at pleasurable
wrists in prone position objects head toward sound) N/A
month placed in palm sounds/sights
Head does not lag when pulled persistently Laughs out loud
into sitting position
May start responding to
Sits with a curved back with arms Recognizes primary his/her name
5th
Intentionally grabs
supporting the trunk (parachute N/A care giver on seeing Squeals N/A
month objects (e.g., cube)
position) them Expresses anger (without
crying)
Regards self in mirror Babbles
Transfers objects
6th Sits without support and vocalizes Starts speaking in Attempts to feed
from one hand to N/A
month Rolls over from back to front Differentiates familiar monosyllables (“ma,” self
another
and unfamiliar faces “ba,” “ah”)
Responds to his/her Holds own bottle
8th Looks for name Feeds self small
Commando crawls Scissor grasp N/A
month dropped objects Responds to simple foods (e.g.,
commands cereal)
Stranger anxiety may
start Speaks in bisyllables
9th Pulls himself/herself up to stand
Pincer grasp N/A Separation anxiety Says mama and dada; but N/A
month Begins to crawl
may start non-specific
Waves goodbye
Crawls well Can sip from a
10th Says mama, dada
Cruises (walks while holding on N/A N/A Enjoys peek-a-boo cup held for him
month specifically
to objects for support) or her
119
Early Developmental Milestones (Cont.)
Gross motor Fine motor
Cognitive milestones Social milestones Language milestones Self-care milestones
milestones milestones
Follows one-step commands
12th Walks with support Puts block in a Gives/shares objects with
Imitates others with gesture (e.g., hands up) N/A
month (holding hands) cup others
Knows 1–3 words
Builds stack of
15 2 blocks Follows commands Uses a spoon to
Walks backwards N/A Helps in house-work
months Scribbles ( Knows 3–6 words feed him- or herself
)يشخبط
Builds stack of
18
Runs 4 blocks N/A Has temper tantrums Knows 6 words N/A
months
Kicks ball
Exhibits selfish behavior;
Walks up and down Builds stack of Speaks in 2-word sentences
says “No, mine!”
2 years stairs 6 blocks N/A Knows some parts of the body N/A
Comforts others
Kicks a ball Copies a line (e.g., eye, nose, mouth)
(empathy)
Separates easily from
parents
Builds stack of Understands gender
Initiates interaction with Speaks in 3-word sentences
3 years Pedals a tricycle 8 blocks difference N/A
other children Mostly intelligible speech
Copies a circle Toilet trained
Role plays “house”,
“doctor”, etc.
Copies a May have imaginary Tells complex stories
4 years Hops on one foot Play cooperatively Dresses oneself
square friends Names colors
Copies a
Skips
triangle Understands Can count
5 years Catches a ball N/A N/A
Can lace up opposites Intelligible speech
Doing a somersault
shoes
120
Normal growth in infants and young children
Growth charting
Growth charts are used to calculate a child's growth percentile by plotting the weight and height of the child on
standardized charts.
Normal weight-for-age velocity
o Term neonates lose up to 10% of their birth weight in the first few days after delivery; birth weight is normally
regained within 2 weeks
o Birth weight should double by 4 months of age and triple by one year of age
Normal height-for-age velocity
o From birth to 6 months: 2.5 cm (1 in) per month
o From 6 months to 1 year: 1.3 cm (0.5 in) per month
o Height at 1 year of age should be ∼ 50% more than the birth height
Weight-for-height: useful in detecting malnutrition in children < 5 years of age
Head circumference-for-age
o Normal growth
From birth to 3 months: 5 cm
3–6 months: 4 cm
6–9 months: 2 cm
9–12 months: 1 cm
o All children should be evaluated for microcephaly and macrocephaly during the first 3 years of life.
Microcephaly: An abnormally small head with a circumference that is < 2 standard deviations below the mean
size for a given age and sex (usually < 3rd percentile).
Occurrence:
1. Chromosomal trisomies,
2. Fetal alcohol syndrome,
3. Congenital TORCH infections,
4. Cranial anatomic abnormalities,
5. Neural tube defects
Macrocephaly: An enlarged head with a circumference that is ≥ 2 standard deviations above the mean size for a
given age and sex (usually ≥ 97th percentile).
Occurrence:
1. Hydrocephalus,
2. Neurofibromatosis,
3. Tuberous sclerosis,
4. Skeletal dysplasia,
5. Acromegaly,
6. Intracranial hemorrhage,
7. Cerebral metabolic diseases (e.g., Tay-Sachs disease, maple syrup urine disease).
121
Infant nutrition and weaning
Breastfeeding
Advantages of breastfeeding
o Passive immunity against infections → lower rates of gastrointestinal, respiratory, urinary tract, and middle-ear
infections/sepsis
o Long-term benefits: lower risk of obesity, cardiovascular diseases, diabetes mellitus, cancer (leukemia, lymphoma);
possibly also asthma and allergies (controversial)
Formula feeds
o Breastfeeding is contraindicated
Supplementation
Vitamin D supplementation
o Vitamin D supplementation can be stopped once the infant is started on vitamin D fortified cow's milk (usually after
1 year of age)
Iron supplementation
o In premature infants (they have lower iron stores and increased demands)
o Should be supplemented daily until 6 months of age to avoid iron deficiency anemia
Weaning
Solid foods should be slowly initiated in infants between 4–6 months of age, with continued breast/formula
feeding
122
The recommended initial weaning food is rice cereal fortified with iron (Since it is hypoallergenic, easily
digestible, and a good source of iron)
123
Failure to thrive (FTT)
Definition
Seen in up to 10% of children in the United States (most < 18 months of age)
History of intrauterine growth restriction, prematurity, and low birth weight are risk factors for the development
of FTT.
Etiology
o Inadequate intake of calories [E.g., problems with breast feeding (e.g., cleft palate and cleft lip), gastroesophageal
reflux]
o Inadequate absorption of calories [E.g., food allergies, malabsorption, congenital hypertrophic pyloric stenosis,
inborn errors of metabolism, inflammatory bowel disease, celiac disease (in older children)]
o Excessive loss of calorie [E.g., due to hyperthyroidism, chronic pulmonary/cardiac/renal disease, chronic infection,
malignancy]
Clinical features
o Developmental delay
o Failure to gain weight despite adequate feeds [Suggestive of an underlying organic disorder (e.g., hyperthyroidism,
cardiac failure, malignancy)]
o Deceleration of weight velocity that crosses 2 major lines on the growth chart
Diagnostics
History of feeding habits (e.g., quantity of feeds, frequency of feeds, food refusal)
Laboratory studies
124
o Complete blood count and ESR
o Urinalysis
Imaging
o Chest x-ray
o Echocardiogram
Well-child examination
Definition: a preventive health care schedule for children to promote health or detect and treat a disease early
Schedule
o At 1, 2, 4, 6, 9, and 12 months
o After the first year, well-child examination schedule is carried out at 15, 18, 24, and 30 months; then annually until
the child is 10 years old.
125
Short stature
Definition
Short stature: height of 2 or more standard deviations below the mean for children of the same age,
sex, and, ideally, race and ethnicity; or an adult height of 4'10″ (147 cm) or less
Proportionate short stature: limbs proportionate to trunk; seen in most cases of familial short stature
Disproportionate short stature: limbs disproportionately short compared to trunk; seen mostly in
cases of skeletal dysplasia
Height is usually increased by 50% at 1 year of age, doubles at 4 years of age, and triples at 13 years of age
Diagnostics
Evaluation of possible causes (see “Causes of short stature” below)
o Family history
o CBC, differential blood count, ESR
o Thyroid function tests
o Renal function tests and urinalysis
o Screening for GH deficiency; IGF-l, IGFBP-3 levels (Consider additional cranial MRI if hypothalamic or pituitary tumors
are suspected)
o Hormone profile to assess puberty status (LH, FSH, estrogen/testosterone)
o Genetic karyotyping
X-ray
o Anterior posterior image of left hand and wrist
o Bone age is determined and adult height is predicted by comparing x-ray images of the hand to images of bones in a
standard atlas of bone development, which is based on data from large numbers of other children of the same age
and gender
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Causes of short stature
Causes of short stature Pathophysiology Specific features
Familial short stature Inheritance of parental short stature (Growth is parallel to the 3rd or Normal development; skeletal age
5thpercentile) consistent with chronological age
Non-pathological Constitutional growth delay Usually history of one or both parents with delayed development
Delayed skeletal age and onset of puberty
(delayed puberty); normal adult height
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Chronic infections, increased energy
damage of bowel and lungs
requirements
128
Causes of short stature (Cont.)
Causes of short stature Pathophysiology Specific features
Metabolic Diabetes mellitus type 1 Severe glucosuria → caloric deficit Excessive thirst and urination
diseases Rickets Vitamin D deficiency → hypophosphatemia Abnormal epiphyseal development, and bowing of the extremities
Mineral bone disorder Polyuria with mineral loss
Renal disease (chronic renal failure) Abnormalities in the GH/IGF-1 system Anemia of chronic kidney disease
Chronic anemia due to reduced EPO production Rickets (bone deformities, impaired growth)
Cardiac disease and chronic oxygen Severe cases of anemia (e.g., sickle cell anemia,
deficiency
Anorexia and increased energy requirements
thalassemia), cyanotic heart defects
Chronic inflammation of joints
Rheumatological diseases (juvenile arthritis) Also due to side effects of long-term high-dose Stiffening, deformation of joints and growth retardation
glucocorticoid therapy of juvenile arthritis
HIV Anorexia
Immunologic
diseases
Severe immunodeficiency Malabsorption, diarrhea
SCID
Severe infections, and organ failure (e.g., HIV wasting syndrome)
Turner syndrome
Down syndrome
Williams syndrome
Genetic Fanconi syndrome Vary Varying degrees of skeletal abnormalities with short stature
Skeletal dysplasias
(achondroplasia, osteogenesis
imperfecta)
Nausea, and vomiting as a result of cancer and
further induced by chemotherapy and radiotherapy
Mass effect of hypothalamic or pituitary tumors →
Neoplasms GH deficiency Growth deficit due to poor appetite
Radiation therapy can damage:
Hypothalamus or pituitary glands → GH deficiency
Thyroid gland → primary hypothyroidism
Psychosocial and psychological Childhood neglect/deprivation and abuse Signs of neglect: poor growth or weight gain, poor hygiene, poor
Anorexia nervosa, depression record of school attendance and medical care, abnormal parent–
child interaction
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Behavioral changes: e.g., apathy, anxiety, inattentiveness, aggression
Also see child abuse.
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Precocious Puberty
Central versus peripheral precocious puberty
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BEHAVIORAL PROBLEMS IN CHILDHOOD
Presentation Differential Workup
9 yo M presents with a 2-year history Attention-deficit hyperactivity
of angry outbursts both in school and disorder (ADHD)
at home. His mother complains that Physical exam
Oppositional defiant disorder
he runs around "as if driven by a
Conduct disorder Mental status exam
motor." His teacher reports that he
cannot sit still in class, regularly TSH, FT4
Manic episode
interrupts his classmates, and has
trouble making friends. Hyperthyroidism
Key History
Onset, severity, duration, triggers;
Physical violence or use of weapons;
Substance use, developmental history, changes in environment or school performance;
Change in personality, anhedonia.
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Childhood Disorders
Conduct disorder
o Involves behaviors that violate major societal norms or the rights of others (e.g.
Differential Diagnosis aggression, property destruction, theft, deceitfulness, & rule violations).
Disruptive mood dysregulation disorder
o Involves severe, pervasive irritability and poor frustration tolerance, resulting in
frequent temper outbursts
Learning disorder
o May appear inattentive due to frustration but do not have difficulties apart from
the academic setting
Stimulants (methylphenidate, amphetamines)
Treatment Non-stimulants (atomoxetine, alpha-2 adrenergic agonists)
Behavioral therapy
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Childhood Disorders (Cont.)
Selective mutism
Differential o The child refuse to speak in a specific social situation but engage in normal
Diagnosis communication in situations in which she feels comfortable (e.g. at home with siblings)
o The diagnosis requires consistent (≥1 month) failure to talk in situations in which it is
expected (e.g. school) despite speaking in other situations
Social (pragmatic) communication disorder
o Characterized by impaired communication without evidence of restricted interests or
repetitive behavioral patterns
Adjustment disorder
Generalized anxiety disorder
o Involves persistent worry, anxiety, and tension regarding multiple issues and situations
(e.g. school, social acceptance, finances, & safety)
Separation anxiety disorder.
o Children with this disorder have extreme and persistent anxiety with separation and
excessive worry about losing major attachment figures.
o They may have physical symptoms (e.g. stomach aches, headaches), repeated
nightmares involving the theme of separation, difficulty sleeping alone, and school
refusal
Stranger anxiety
o Is the fear of being around unknown people rather than fear of separation from parents
and can occur with the parents in the room.
o It is developmentally appropriate beginning around age 6-12 months
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Childhood Disorders (Cont.)
Conduct Disorder
Pattern of violating major societal norms & rights of others for ≥1 year
Clinical Aggression & cruelty toward people & animals
Destruction of property, setting fires
features Serious violation of rules (truancy, running away)
Deceitfulness or theft (lying, stealing)
Attention-deficit hyperactivity disorder
Kleptomania
o The child is unable to resist the impulse to steal objects that are of low monetary value or
not needed for personal use.
o Overwhelming feelings of tension or anxiety precede impulses and are relieved with the
act of theft
Pyromania
DSM-5 diagnosis
Differential o Deliberate fire setting on more than 1 occasion
Diagnosis o Tension, arousal prior to act
o Fascination ( )افتتانwith fire & its consequences
o Pleasure or relief when setting/witnessing fires
o No external gain, revenge, or political motivation; not done to attract attention
o Not better explained by conduct disorder, manic episode, psychosis, antisocial personality
disorder, or impaired judgment (neurocognitive disorder, substance intoxication)
Oppositional defiant disorder
o Compared to conduct disorder, the symptoms of oppositional defiant disorder are less
severe and do not include stealing or aggression toward people
Substance abuse
Cognitive-behavioral therapy, family therapy
Treatment
Parent management training
Tourette Disorder
Both multiple motor & one or more vocal tics (not necessarily concurrent, >1 year)
o Motor: Facial grimacing, blinking, head/neck jerking, shoulder shrugging, tongue
DSM-5 protrusion, sniffing
o Vocal: Grunts, snorts, throat clearing, barking, yelling, coprolalia (obscenities)
Onset before age 18
Comorbid Obsessive-compulsive disorder and
conditions Attention deficit hyperactivity disorder
Antipsychotics
Treatment Alpha adrenergic receptor agonists (e.g. clonidine, guanfacine)
Behavioral therapy
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Health Maintenance
Screening for hypertension
Starting Age All adults 18 years of age and older
Frequency Every 2 years for adults with a normal BP, and 1 year for adults with prehypertension.
Screening for hyperlipidemia
All men ≥35 and women ≥45
Starting Age Or at increased risk for CAD: men aged 20 to 35 and women aged 20 to 45
Risk of CAD (e.g., smokers, diabetic patients, family history of CAD, HTN).
Frequency Every 4 to 6 years
Measure a non-fasting total cholesterol and HDL cholesterol
o If total cholesterol is <200 mg/dL and HDL is >35 mg/dL, repeat screening in 5 years
Tool
o If total cholesterol is >240 mg/dL or between 200 and 240 with multiple risk factors,
get a complete lipoprotein profile (TG levels and calculation of LDL).
Colorectal cancer (CRC) screening
I. Average-risk patients
Starting Age: 50 to 75 years of age
Tools & Frequency:
1. Colonoscopy every 10 years
2. Flexible sigmoidoscopy every 5 years and fecal occult blood test every 3 years
3. Fecal occult blood test every year
II. Moderate-risk patients
Patients with single or multiple polyps, personal history of CRC
o Initial colonoscopy; repeat at 3 years—if normal, then colonoscopy every 5 years
Family history of CRC or adenomatous polyps in first-degree relatives
Starting Age, Tools o Colonoscopy at age 40 or 10 years younger than the youngest case in family; if
& Frequency normal, repeat in 3 to 5 years
III. High-risk patients
Families with familial adenomatous polyposis (FAP):
o Genetic testing at age 10; consider colectomy if positive genetic testing or
polyposis is confirmed; if not, colonoscopy every 1 to 2 years beginning at
puberty
Families with hereditary nonpolyposis CRC:
o Genetic testing at age 21; if positive, colonoscopy every 2 years until age 40, and
then every year thereafter
Patients with ulcerative colitis
o Colonoscopy 8 years after disease onset, then every year thereafter
Meningococcal Vaccination
Regular schedule • Primary vaccination preferably at age 11 - 12
(vaccinate at age 11 - 18) • Booster at age 16 - 21 (if primary vaccination at age <16)
• Complement deficiency, asplenia
High-risk patients
• College students in residential housing (age ≤21), military recruits
(vaccinate even if age >18)
• Travel to endemic area, exposure to community outbreaks