Case #1

CASE #1
15 years old boy shifted to PICU after posterior

fossa tumor resection. Post operative CT head
revealed small amount of cerebral edema.During
the second day of stay in PICU patient develop
polyuria.He had not been given any diuretic
medication. Urine osmolality was ordered and
found to be low.Dignosis of DI made.
• Q1-How to differentiate between central DI
and nephrogenic DI?
• Q2-What do you mean by “Triphasic
response”?
• Q3-What is the management for this child?
CASE #2
While receiving a baby in OR you observe that
although the baby appears to have a penis but
no obvious scrotum and no palpable testis,
with a phallus size of 1.5cm, labioscortal folds
are fused and pigmented, baby is otherwise
normal and this is the first child of the couple.
• Q1-What is the likely diagnosis?
• Q2-What investigations are needed?
• Q3-How do you manage this case?
CASE#3
• A 10 years old boy (30 kg) presented to the
emergency with 1 day history of vomitings and
lethargy.
• Vitals show temp 37C, HR 110/m, RR 25/m BP
99/65. Patient is lethargic, but oriented. Exam
reveal dehydration but otherwise normal.
• Labs: Reflo 400mg/dl, pH 7.05 PaCO2 20, PaO2
100, BE -20, Na+ 133, K + 5.2, Cl 96 HCO3 of 8.
Urine shows 4+ glucose and large ketones
• Q1-Likely diagnosis?
• Q2-How to judge the severity(classification)?
• Q3-Calculate the fluid requirement of this
child.
CASE #4
• Enlist the important points while counselling
for a newly diagnosed DM.
CASE #5
• A 12-year-old girl is brought in by her mother,
who is concerned because her daughter is short
even compared with other family members. The
girl has no significant past medical illness or
family history of disease that might be associated
with short stature and is free of symptoms. She is
a good student. Her father is 171 cm tall and her
mother is 160 cm tall. Neither was a “late
bloomer.”On physical examination, the pre
pubertal girl has no signs of disease. Her height is
131 cm (<5th percentile for age), and her weight
is32 kg (25th percentile).
CASE #5
• Q1-Calculate the mid parental height.
• Q2-Give the possible diagnosis if :
(i)CA>BA=HA
(ii)CA=BA>HA
CASE#6
• 9. A 2 week old male infant presents with
projectile vomiting and dehydration. The
infant's electrolytes are as follows: Na 126
mmol/L, K 6.5 mmol/L, Cl 92 mmol/L, Bicarb
15 mmol/L, glucose 45 mg/dL.
• Q1-Most likely diagnosis?
• Q2-Pattern of inheritence?
• Q3-pertinent history points?
CASE#7
• On follow up visit of a 10 years old girl visited
last time for short stature, work up showed
chromosomal pattern of 45XO, a diagnosis of
Turner’s Syndrome made.
• Q1-Apart from short stature what are the
further associations of Turner’s Syndrome?
• Q2-What are the management options?
CASE#8
• Q1-Identify
• Q2-What is th mode of inheritence?
• Q3-How to manage this condition?
CASE#1
• Q1-Vasopressin test.
• Q2-(i)Transient DI- due to local edema
• (ii)SIADH-Unregulated vasopressin release
from dying neurons.
• (iii)-Permanent DI- After more than 90%
neurons destroyed.
• Q3-After neurosurgery DI cases best managed
with continuous administration of synthetic
aqueous vasopressin(1.5mU/kg/hr)
CASE#2
• Q1-Ambigious genitalia(Disorder of sexual
differentiation).
• Q2-(i)Reflo (ii)Electrolytes(ii)Karyotype (iv)

17OHProgesterone(v)Testosterone(vi)Cortisol
(vii) ACTH (Stimulation test) Renin(viii)Urinary
17 ketosteroids(ix)Pregnantriol(x)Voiding
cysto(xi)Ultrasound(xii)CYP 21 Mutation
• Steroid 15-20mg/m2
• Increase during stress
• Precocious puberty
• Monitoring of steroid
• Fludrocortisone 0.1-0.3
• Nacl
• Corrective surgery
CASE #3
• Q1-Diabetic Ketoacidosis.
• Q2-Mild Moderate Severe
CO2 16-20 10-15 <10
PH 7.25-7.35 7.15-7.25 <7.15
Clinical Fatigued sleepy but arousable sleepy to
comatose
Q3- First hour Normal saline bolus of 300ml
2nd and subsequent hr=(85ml*30)-300/23=175ml/h
•
CASE#4
Education is provided by a multidisciplinary
• team, including specialist nurses and dieticians. The aspects of management that
• need to be discussed include:
• regular finger-prick blood testing – up to four times daily
• interpreting blood glucose results and altering insulin
• recognition and treatment of hypoglycaemia – ‘hypos’ really worry parents and older
• patients, especially at night
• management during intercurrent illness, e.g. flu
• blood or urine ketone estimations
• who to contact in an emergency
• diet
• school – trusting staff in everyday care
• peer group relationships – diabetes risks making children feel ‘different’
• exercise
• the ‘honeymoon’ period
• long-term complications – discuss even at outset because many families know about
• and fear complications and need objective information
• using glycosylated haemoglobin (HBA1c) to measure overall control
• membership of local and/or national support groups
CASE #5
• Q1- 160+(171-13)/2=159cm
• Q2- (i) if normal GV constitutional delay
abnormal GVchronic disease
(ii) normal GVgenetic short stature,SGA
abnormal GVchromosomal,
syndrome related
CASE#6
• Q1-Salt wasting congenital adrenal hyperplasia
• Q2-Autosomal recessive
• Q3-Consanguinity, Previous siblings
death/Dysmorphism, Family H/O polyuria,H/O
Diabetes/RTA, Polyhydramnios,Feeding
intolerance,Num of diaper change,
developmental milestones.
CASE#7
• Q1-(i)Coarctation of Aorta
(ii)Bicupid Aortic valve
(iii)Horseshoe kidney
Q2-Recombinant human growth hormone

Estrogen therapy
CASE#8
• Q1-Achondroplasia
• Q2-Autosomal Dominant.
• Q3-Genetic counselling of parents
(i)Phsiotherapy-exercises to correct
lumbosacral curve.
(ii)Orthopedic procedures-hip
extension,limb lengthening
Social, emotional and educational support.

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CASE #1

15 years old boy shifted to PICU after posterior

• Q2-(i)Reflo (ii)Electrolytes(ii)Karyotype (iv)

Q2-Recombinant human growth hormone

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