A Paediatric Mind

02/06/2026

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31/05/2026

Alpers- Huttenlocher syndrome ?

31/05/2026

Question: Which specific gene containing the sex-determining region on the Y chromosome acts as a transcription factor essential for the initial development of te**es?
A) SOX9
B) SRY
C) WT1
D) NR5A1








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31/05/2026

Question 1 : A 15-year-old phenotypic female presents with short stature, delayed puberty, and a wide carrying angle (cubitus valgus). On evaluation, she is diagnosed with Turner syndrome. Which of the following cardiovascular anomalies is most commonly associated with this condition according to standard presentations?
A) Tetralogy of Fallot
B) Transposition of the Great Arteries
C) Coarctation of Aorta
D) Ventricular Septal Defect

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Question 2. For a patient presenting with suspected autoimmune manifestations linked to this syndrome, which screening pair should be ordered?

A) Rheumatoid factor and ANA
B) Thyroid function tests and tissue transglutaminase antibodies
C) Anti-dsDNA and Anti-Sm antibodies
D) Fasting blood glucose and C-peptide levels







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30/05/2026

30/05/2026

Question:- A 5-year-old girl is diagnosed with her first episode of idiopathic nephrotic syndrome. Her renal function is normal and complement levels are within normal limits. What is the standard recommended first-line treatment?

A) Intravenous cyclophosphamide
B) High-dose oral prednisolone
C) Oral cyclosporine
D) Intravenous rituximab

29/05/2026

Q.What is the classic diagnostic triad that defines nephrotic syndrome in children?
A. Hematuria, hypertension, and azotemia
B. Massive proteinuria, hypoalbuminemia, and edema
C. Proteinuria, hypercholesterolemia, and hematuria
D. Hypoalbuminemia, hyperkalemia, and oliguria