4 - Paediatrics
4 - Paediatrics
4 - Paediatrics
VERSION 5.7
PAEDIATRICS
Marfan Syndrome
Differential Diagnosis
● Ehler-Danlos syndrome
● Fragile X syndrome
● Homocystinuria
PLABABLE
Marfan Syndrome
PLABABLE
Normal Puberty
● Delayed puberty :
Females → No breast development till 13 years
or breasts developed but no periods till 15 years
PLABABLE
Delayed Growth and Puberty
Brain trainer:
PLABABLE
Infantile Spasms
PLABABLE
APGAR
PLABABLE
Traffic Light System
Colour
● Blue or pale
Respiratory
● Grunting
● RR > 60
● Moderate chest indrawing
Circulation / hydration
● Reduced skin turgor
Other
● Non-blanching rash
● Bulging fontanelle
● Focal neurological signs
● Seizures
PLABABLE
BRAIN TRAINER
Brain trainer:
PLABABLE
Pyloric Stenosis
Presentation
● Persistent non-bilious vomiting weeks after birth
● Usually an hour after feeding
● Constant hunger, weight loss, and dehydration
● Olive shaped mass in the abdomen
● Electrolyte abnormalities
● Metabolic alkalosis
Diagnosis:
Initial and most urgent investigation → Serum K+
Definitive diagnosis → Ultrasound
Treatment:
● Fluid replacement and correction of electrolyte
imbalance (first-line)
● Pyloromyotomy (definitive treatment)
PLABABLE
Duodenal Atresia
Presentation
● Persistent bilious or non-bilious vomiting and
abdominal distension
● Polyhydramnios
● Double bubble sign on abdominal X-ray
● Associated with Down’s syndrome
Treatment
● Abdominal decompression using NG tube
● Fluid replacement and electrolyte monitoring
● Duodenoduodenostomy (definitive treatment)
PLABABLE
Oesophageal Atresia & TEF
Presentation
● Polyhydramnios during pregnancy
● Difficulty in feeding following birth
● Associated with VACTERL anomalies
Treatment
● Surgical treatment is definitive
● Fluid and electrolyte management
PLABABLE
Oesophageal Atresia & TEF
PLABABLE
Important “Bubble” Radiological
Signs
PLABABLE
Intussusception
Presentation:
● Acute coliky abdominal pain in an infant
→ Patient may draw knee to chest for relief
● Abdominal obstruction and bilious vomiting
● Red-currant jelly stool
● Palpable sausage-shaped mass in the abdomen
Investigations
● Abdominal X-ray: dilated gas filled abdomen
with multiple air-fluid levels
● USG: donut sign and target sign
Treatment
● Electrolyte and fluid correction
● Air enema (If there is no perforation, peritonitis
or shock)
● Open surgery - resection and anastomosis
PLABABLE
Intussusception
PLABABLE
Meckel’s Diverticulum
Presentation
● Most are asymptomatic
● Painless rectal bleeding
● If obstruction → Vomiting and abdominal pain
Investigations
● Initial → Radioisotope scan
● Laparotomy
Treatment
● Symptomatic patients, patients with complications
→ Surgical resection
Complications
● Haemorrhage
● Diverticulitis
● Intestinal obstruction
PLABABLE
Management Of Hernia In
Children
Umbilical hernia
● Asymptomatic umbilical hernia → Reassure
(closes spontaneously by the 4th year)
● Asymptomatic umbilical hernia in >4 year old →
Refer to paediatric surgeon
● Incarcerated/strangulated hernia → Urgent
referral to paediatric/general surgery team
Inguinal hernia
● All infants with asymptomatic inguinal hernia →
Refer to secondary care due to high risk of
incarceration
● Older children with asymptomatic inguinal hernia
→ Routine referral to secondary care
● Incarcerated or strangulated hernia →
Emergency referral to secondary care
Investigations
Abdominal x-ray (initial), blood film,culture and
coagulation studies
Treatment
● Initial → Stop feeds
● NG tube free drainage and aspiration
● Fluid and electrolyte balance
● Antibiotics → Penicillin + gentamicin +
metronidazole
● Pneumoperitoneum present → Surgery
PLABABLE
Scarlet Fever
Features
● Cause: Streptococcus pyogenes
● Sandpaper like rash on the chest and back and
then spreads to the limbs (image below)
● Sore throat and fever
● Strawberry tongue (image below)
● Swollen lymph nodes
Treatment
● Penicillin for 10 days
● If pen allergic: azithromycin for 10 days
PLABABLE
Congenital Hypothyroidism
Features
● Common cause: thyroid agenesis or dysgenesis
● Symptoms: feeding difficulties, lethargy and low
frequency of cry
● Signs: large fontanelles, macroglossia, jaundice,
umbilical hernia, and hoarse voice
Treatment
● Thyroxine hormone replacement
PLABABLE
Congenital Hypothyroidism
PLABABLE
Cystic Fibrosis
PLABABLE
Cystic Fibrosis
Diagnosis
● Screening test → Newborn heel prick test
● Sweat chloride testing
● Genetic testing for CFTR gene
● Chest X-ray or CT - bronchiectasis
Treatment
● Chest physiotherapy
● Bronchodilators
● Dornase alfa and hypertonic saline to reduce
viscosity of mucous
● Pancreatic enzyme replacement (pancreatic
insufficiency)
● Chronic P. aeruginosa infection with nebulised
colistimethate sodium or tobramycin
● Lung transplantation in a case of respiratory
failure
PLABABLE
Newborn Screening
PLABABLE
Non-Accidental Injury
Presentation
● Delayed time to medical presentation
● Step-father or boyfriend accompanies child
● Bruises of varying degrees and colours
● Bruising at unusual sites
● Fracture history, particularly: rib and spinal
Management
● Admit to ward and manage pain
● Involve the local safeguarding children team
● Refer to social services
● Treat any other underlying medical conditions
Differential diagnosis
● Henoch-Schönlein purpura
● Haemophilia
● Idiopathic thrombocytopenic purpura
● Leukaemia
● Osteogenesis imperfecta
PLABABLE
Non-Accidental Injury Vs Other
Distractors
● Haemophilia
→ Prolonged APTT
→ Spontaneous bleeding in joints
● Henoch-Schönlein purpura
→ Look for PAAN in the question
Purpura, Arthralgia, Abdominal pain,
Nephropathy (hematuria, proteinuria)
● Osteogenesis Imperfecta
Remember the mnemonic “BBBBB”
→ Bruises
→ Bone (Increased chance of fracture)
→ Blue sclerae
→ Biting problems (Teeth imperfections)
→ Bad hearing
PLABABLE
Non-Accidental Injury Vs
Osteogenesis Imperfecta
No!
PLABABLE
Nocturnal Enuresis
Causes
● Developmental delay
● Urinary tract infection / constipation
● Type 1 DM
PLABABLE
Primary Bedwetting
Reassure + Positive
reward system
PLABABLE
Primary Bedwetting
PLABABLE
Secondary Bedwetting
Secondary bedwetting
PLABABLE
Infant Respiratory
Distress Syndrome
Risk factors
● Premature infants
● Caesarean delivery
● Maternal diabetes
● Meconium aspiration syndrome
Presentation
● Respiratory distress
● Subcostal and intercostal retractions
● Tachypnoea
● Expiratory grunting
● Cyanosis if severe
Investigations
● Monitor oxygen saturation
● Arterial blood gas analysis
● Chest X-ray - ground glass appearance
Treatment
● Endotracheal surfactant replacement
● Intermittent positive pressure ventilation
● Fluid and electrolyte monitoring
PLABABLE
Infant Respiratory
Distress Syndrome
PLABABLE
Transient Tachypnoea Of The
Newborn
Investigation
● Chest x-ray → Fluid in the horizontal fissure
Management
● Administer oxygen
● Features of respiratory distress usually settle in a
day (can sometimes go on for a few days)
PLABABLE
Meconium Aspiration Syndrome
Risk factors
● Post date (>42 weeks gestation)
● Maternal hypertension
● Oligohydramnios
● Placental insufficiency
Treatment
● Airway suctioning
● Maintenance of oxygen saturation
● Fluid and electrolyte monitoring
PLABABLE
Meconium Aspiration Syndrome
PLABABLE
Infant In Respiratory Distress
PLABABLE
Infant In Respiratory Distress
PLABABLE
Newborn Jaundice
Physiological jaundice
● Presents from 24 hrs to 2 weeks after birth
● Usually harmless but needs continuous
observation.
● Needs treatment if the bilirubin level is high
Pathological jaundice
● Presents within 24 hrs and or persists even after
2 weeks after birth
● Very high bilirubin level
● Baby is irritable, and is not feeding well
Causes
● Haemolytic disease of the newborn
● Infection and sepsis
● Increased hemolysis due to haematoma
● Liver disorders such as Dubin-Johnson syndrome
● Hypothyroidism
● Biliary atresia
● Cystic fibrosis
PLABABLE
Newborn Jaundice
Treatment
Depends upon the bilirubin level and the age of the
baby
● Phototherapy if bilirubin is mildly above the
cut-off for age
● Exchange transfusion if bilirubin is highly
elevated above the cut-off for age
PLABABLE
Newborn Jaundice
Bilirubin
Mostly Mostly
Unconjugated Conjugated
Diagnosis →
● Conjugated hyperbilirubinaemia
● Raised GGT
● Abdominal ultrasound
● Cholangiogram
● Percutaneous biopsy (definitive diagnosis)
PLABABLE
Biliary Atresia
Unconjugated
bilirubin
Hepatic
conjugation
Conjugated
bilirubin
Conjugated Conjugated
bilirubin bilirubin
Conjugated Conjugated
bilirubin bilirubin
PLABABLE
Breast Milk Jaundice
Investigation
● Perform split bilirubin test (shows increased
unconjugated bilirubin levels)
Management
● Occasionally, breastfeeding may be stopped for
24 hours and formula is given till the diagnosis is
established
● In majority of infants, interrupting breastfeeding is
not necessary or advisable
PLABABLE
Febrile Seizure
Classified into
● Simple (<15 min, generalised and tonic-clonic),
● Complex (>15 min or focal)
● Febrile status epilepticus (>30 min without
complete recovery)
Management
● Patient in recovery position and check ABC
● Seizure episode >5 min then give rectal
diazepam
● R/O other causes of seizures such as meningitis,
hypoglycemia and electrolyte imbalance
PLABABLE
Febrile Seizure
PLABABLE
Seizures Without Fever
PLABABLE
Developmental Milestones
PLABABLE
Developmental Milestones
PLABABLE
Developmental Milestones
The BIG 2
What should you be able to do at 2 years of age?
Walks independently
Can run tip toe
PLABABLE
Sudden Infant Death Syndrome
PLABABLE
Sudden Infant Death Syndrome
PLABABLE
Breath Holding Spells Vs Reflex
Anoxic Seizures
PLABABLE
Malrotation & Volvulus
Brain trainer:
PLABABLE
Diagnosis
Brain trainer:
➔Henoch-Schönlein Purpura
PLABABLE
Henoch-Schönlein Purpura
PLABABLE
Henoch-Schönlein Purpura
Clinical features
● Skin purpura → Buttocks, lower legs, extensor
surfaces
● Joint pain
● Abdominal pain and bloody diarrhoea
● Glomerulonephritis (Hematuria and proteinuria)
● Recent h/o URTI or gastroenteritis
Management
● Symptomatic treatment such as pain killers for
arthralgia
● Most people recover without any active
intervention
PLABABLE
Haemolytic Uraemic Syndrome
Microangiopathic
hemolytic
anaemia
TRIAD
PLABABLE
HUS vs HSP
PLABABLE
Nephrotic Syndrome
Clinical features
Can be memorised using the mnemonic “PALE”
● P → Proteinuria (massive)
● A → HypoAlbuminemia
● L → HyperLipidemia
● E → oEdema (pedel, periorbital and facial)
Another important feature → Hypercoagulability
Treatment
● Steroids
● Cyclophosphamide (resistant cases)
PLABABLE
Urinary Tract Infection
Presentation
● Fever
● Abdominal pain
● Loin pain
● Dysuria
● Increased frequency
Risk factors
● Stasis of urine such as in renal calculi, VUR,
phimosis etc.
● Constipation
● Sexual abuse
● Previous history of UTI
Investigation
● Urine culture and sensitivity by either clean
catch urine sample or catheter sample or
suprpubic aspiration
● Dipstick testing - nitrites
Treatment
● Nitrofurantoin MR 100mg BD
● Trimethoprim 200 mg BD
PLABABLE
Urinary Tract Infection
In Infants Less Than 6 Months
PLABABLE
Urinary Tract Infection
Above 3 years
Straightforward UTI
No imaging
Responds well to required
treatment within 48
hours
PLABABLE
Recurrent Urinary Tract Infection
Above 3 years
M. C. U. GEE
PLABABLE
Vesicoureteric Reflux
Clinical Features
● Usually asymptomatic
● May present as a UTI due to increased risk
Investigations
● Initial investigations →
○ Urinalysis, urine culture and sensitivity
○ Renal ultrasound (may show ureteral dilation)
● Gold standard → Micturating cystourethrogram
● Parenchymal damage detected → Technetium
scan (DMSA)
Indication Treatment
VUR grade I-IV Low dose antibiotic
prophylaxis
(trimethoprim)
Failed prophylaxis Surgical correction
Parenchymal damage
Breakthrough UTI
Persistent high grade
reflux (grades IV-V) PLABABLE
Acute Epiglottitis
Presentation
● Drooling of saliva
● Muffled voice - Hot potato voice
● High temperature
● Odynophagia and dysphagia
● Stridor (sign of airway obstruction)
Investigation
● Laryngoscopy - gold standard
● Lateral neck X-ray - thumb sign
● Throat swab
Treatment
● Intubation if signs of airway obstruction are
present
● IV antibiotics
● Fluids
PLABABLE
Croup
Clinical features
● Barking cough
● Hoarse voice
● Inspiratory stridor
● Fever
Treatment
● Most appropriate - Dexamethasone
PLABABLE
Bronchiolitis
Clinical features
● Persistent cough
● Respiratory distress
● Wheeze
● Bilateral crepitations
● Tachypnoea
● Chest retractions
● Common cause: Respiratory syncytial virus
Treatment
● Oxygen (±humidified) and IV fluids (symptomatic)
PLABABLE
Bronchiolitis Vs Croup
PLABABLE
Bronchiolitis Vs Croup
Bronchiolitis Croup
PLABABLE
Inspiratory Stridor and Expiratory
Stridor
Extrathoracic pathologies
cause an inspiratory stridor
(e.g. any pathologies from
larynx and above)
Intrathoracic pathologies
cause an expiratory stridor
(e.g. pathologies from lower
trachea downwards)
PLABABLE
Differential Diagnosis Of Stridor
In Children
PLABABLE
Pertussis
Clinical features
● Paroxysmal cough
● Vomiting after coughing
● Inspiratory whoop
● Infants may not have the inspiratory whoop but
may have episodes of apnoea or cyanosis
Investigation
● Pernasal or nasopharyngeal swabs
Treatment
● Macrolides
PLABABLE
Osteogenesis Imperfecta
Features
● Autosomal dominant disorder
● Defect in type 1 collagen
PLABABLE
Congenital Adrenal Hyperplasia
Clinical features
● Males: hyperpigmentation and penile
enlargement
● Females: ambiguous genitalia with an enlarged
clitoris
● Vomiting
● Hyponatremia
● Hyperkalemia
● Shock
Treatment
● Glucocorticoids - hydrocortisone and
prednisolone
● Mineralocorticoid - fludrocortisone
● Surgical management for ambiguous genitalia
PLABABLE
Congenital Adrenal Hyperplasia
Brain trainer :
➔ 17-hydroxyprogesterone
PLABABLE
Kawasaki Disease
Clinical features
Remember the mnemonic “CRASH & Burn”
Treatment
● Intravenous immunoglobulin (IVIg) →
Mainstay of treatment
● High dose aspirin
PLABABLE
Scarlet Fever Vs Kawasaki
Disease
PLABABLE
GORD
Clinical features
● Recurrent regurgitation
● Episode of choking
● Feeding issues
● Pneumonia
Risk factors
● Premature birth
● Obesity (child)
Treatment
● Smaller and more frequent meals
● Trial of thickened formula
● Alginate therapy
● PPI or H2RA (in severe cases)
PLABABLE
Cow’s Milk Protein Allergy
Clinical features
● Itching
● Erythema
● Urticaria
● Acute angioedema
● Colicky abdominal pain
● Vomiting and diarrhea
● More common in formula fed babies
Treatment
● Hydrolysed milk product (after stopping cow’s
milk)
● If breast-fed, mother should eliminate cow’s milk
in her diet
PLABABLE
BRAIN TRAINER
Brain trainer:
➔ Psychologist
The patient needs talk therapy in order to come to
terms with his newly diagnosed chronic disease. A
psychiatrist can be involved if the case becomes
more complex.
PLABABLE
Rash With Fever
PLABABLE
Measles or Scarlet fever
PLABABLE
Measles!
Scarlet fever would present with a sore throat
which is not seen here.
PLABABLE
Measles or Rubella
Measles Rubella
No cervical Cervical
lymphadenopathy lymphadenopathy is seen
PLABABLE
Immunisation Schedule
Vaccines
● Diphtheria, hepatitis B,haemophilus influenzae
type b, polio, tetanus, pertussis (6-in-1)
● Measles, mumps, and rubella (MMR)
● Streptococcus pneumoniae (PCV)
● Streptococcus agalactiae (MenB)
● Rotavirus
● Human papillomavirus (HPV)
● Influenza
PLABABLE
Contraindications To Vaccination
PLABABLE
Vaccination and Egg Allergies
Two
Twovaccines
vaccinesininthe
theUK
UKschedule
schedulecontain
contain
smallamounts
small amountsofofeggeggprotein
protein
MMR
MMRvaccine
vaccine Flu vaccine
PLABABLE
Umbilical Granuloma
PLABABLE
PLABABLE
Hand, Foot and Mouth Disease
PLABABLE
PLABABLE
PLABABLE
Brain Trainer
Brain trainer:
PLABABLE
Causative Agents For Common
Illnesses
Mumps Paramyxovirus
PLABABLE
Rashes And School
Condition Recommendation
Scarlet Fever Keep away from school and nursery
until 24 hours from starting antibiotic
treatment
Impetigo Keep away from school and nursery
until lesions are crusted and healed,
or 48 hours after starting antibiotic
treatment
Chickenpox ● Keep away from school and
nursery until vesicles have
crusted over AND at least 5 days
have passed from onset of rash
● Keep away from pregnant women
Measles Keep away from nursery or school
for four days from onset of rash
Rubella Keep away from school or nursery
for four days from onset of rash
Do NOT withdraw from school or nursery in:
● Hand, foot and mouth disease
● Cold sores (herpes simplex)
● Molluscum contagiosum
● Roseola
● Parvovirus B19 (once the rash has developed)
PLABABLE
Roseola
PLABABLE
PLABABLE
Roseola
PLABABLE
PLABABLE
Reactive Lymphadenopathy
PLABABLE
Lymphadenopathy In Children
Reactive Lymphadenopathy
● Follows an acute infection
● If FBC acceptable and no red flags present →
Reassure and discharge
Red Flags
Features of more than 1 of the following should
prompt an urgent referral especially if there are no
signs of local infection :
● Non tender, firm lymph nodes
● Hard lymph nodes
● Lymph nodes >2 cm
● Progressively enlarging lymph nodes
PLABABLE
Dysgraphia
PLABABLE
Plagiocephaly
PLABABLE
Idiopathic Thrombocytopenic
Purpura (ITP)
Features
● Sudden onset of purpura in a usually well child
● Usually ages 2 years old to 10 years old
● Onset after 1 to 2 weeks of a viral infection
(usually URTi)
● May have bleeding (epistaxis, menorrhagia, GI
bleed)
● Low platelets (remaining full blood count usually
normal)
Management
● Prednisolone → First line if treatment required
● IVIG → If bleeding and or unresponsive to
corticosteroids
● Platelet transfusion → Only in life-threatening
bleeding
PLABABLE
Idiopathic Thrombocytopenic
Purpura (ITP) differentials
PLABABLE
Brain Trainer
Brain trainer:
➔ Intraosseous access
PLABABLE
Patent Ductus Arteriosus
Clinical features
● May be asymptomatic
● Apnoea
● Bradycardia
● Increased oxygen requirements
● Bounding peripheral pulses
Diagnosis → Echocardiography
Management
● May close spontaneously
● Indomethacin or ibuprofen (effective in majority
of the cases)
PLABABLE
Innocent Murmur
● Short duration
● Soft
● Sweet (not harsh-sounding)
● Systolic
● Single (no associated clicks or gallops)
● Sensitive (changes with position or respiration)
● Supine (murmur is heard loudest in supine
position)
● Left Sternal edge
PLABABLE
Lateral Neck Masses
Lymphangioma
Branchial cyst
(Cystic hygroma)
Fluctuant + Translucent
non-translucent +
doesn’t move on
swallowing
PLABABLE
Neonatal Conjunctivitis
PLABABLE
Brain Trainer
Brain trainer:
➔ Hearing loss
Congenital CMV is the leading non-genetic cause
of sensorineural hearing loss
PLABABLE
Vitamin D Supplementation
PLABABLE
Perforated Hymen
Important Clinchers →
Horse riding + Red staining of underpants
PLABABLE
Tourette’s Syndrome
Asperger syndrome
● The question would mention impaired social
skills (helps differentiate it from Tourette’s
syndrome)
● Repetitive behavioural patterns
● Normal IQ and language or, in some cases,
superior
● Tics may be mentioned in the question but it is
more specific to Tourette’s syndrome
PLABABLE
Obstructive Sleep Apnoea
Syndrome In Children
Clinical features
● Snoring
● Mouth breathing
● Witnessed apnoeic episodes
● Nasal speech
Investigation
● Gold standard instrument → Overnight
in-laboratory polysomnography (PSG)
PLABABLE
Brain Trainer
Brain trainer:
➔ Complete recovery
PLABABLE
Maintenance Fluid Replacement
PLABABLE
Fluid Replacement (Oral)
PLABABLE
Fluid Replacement (IV)
PLABABLE
Brain trainer
Maintenance fluids
100 ml/kg x 10kg = 1000ml
50 ml/kg x 10kg = 500ml
20 ml/kg x 12kg = 240ml
Total = 1740 ml
PLABABLE
Abdominal Migraine
Next step?
PLABABLE
Image Attributions
https://commons.wikimedia.org/wiki/File:Marfan_Patient.jpeg
Mileny ES Colovati 1 , Luciana RJ da Silva 1 , Sylvia S Takeno 1 , Tatiane I Mancini 1 ,
Ana R N Dutra 1 , Roberta S Guilherme 1 , Cláudia B de Mello 2 , Maria I Melaragno 1
and Ana B A Perez CC BY 2.0
https://commons.wikimedia.org/wiki/File:DuodAtres.png
Kinderradiologie Olgahospital Klinikum Stuttgart CC BY-SA 3.0
https://commons.wikimedia.org/wiki/File:Intussusception.png
BruceBlaus CC BY-SA 4.0
https://commons.wikimedia.org/wiki/File:Scarlet_Fever.jpg
www.badobadop.co.uk CC BY-SA 3.0
https://en.wikipedia.org/wiki/File:Scharlach.JPG
Martin Kronawitter CC BY-SA 2.5
https://commons.wikimedia.org/wiki/File:Blausen_0286_CysticFibrosis.png
BruceBlaus CC BY 3.0
https://commons.wikimedia.org/wiki/File:X-ray_of_infant_respiratory_distress_syndrome_(I
RDS).png
Mikael Häggström, M.D.CC0 1.0
https://en.wikipedia.org/wiki/File:Esophageal_atresia_contrast.png
DrM!KEY
https://commons.wikimedia.org/wiki/File:Purpura_Schonlein_Henoch.JPG
Public domain
https://www.flickr.com/photos/30478819@N08/32971073298
Marco Verch CC BY 2.0
https://commons.wikimedia.org/wiki/File:Characteristically_blue_sclerae_of_patient_with_
osteogenesis_imperfecta.jpg
Herbert L. Fred, MD and Hendrik A. van Dijk CC BY-SA 3.0
https://commons.wikimedia.org/wiki/File:Kawasaki.PNG
Dong Soo Kim CC BY-SA 4.0
https://en.wikipedia.org/wiki/File:Verkalkte_aneurysmatische_Coronarien.jpg
Wkmatzek Public domain
https://www.flaticon.com/free-icon/https_1008792
This cover has been designed using resources from Flaticon.com
https://commons.wikimedia.org/wiki/File:Plagioc%C3%A9phalie.JPG
Gzzz, CC BY-SA 4.0
https://en.wikipedia.org/wiki/Neonatal_conjunctivitis#/media/File:Gonococcal_ophthalmia_
neonatorum.jpg
By CDC/ J. Pledger
PLABABLE