Pick Your Brain !

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Section Editor: Dr. Gurpreet Singh Kochar

 

Dear friends, welcome to the Second Edition of ‘Pick your brain’, the Child Neurology Quiz to engage, enlighten and empower you. The First Edition of the quiz has generated lot of interest and tremendous response. The correct answers for the first quiz can be found at the bottom of this page.

Here, we come with five more clinical questions to stimulate your brain! Fill in your responses and mail us. The readers with maximum correct responses will be awarded at the end of the year, with gift vouchers from AOCN! Do not forget to enter your designation and correct email id. Here we go 😊

1) 9 year-old boy with insidious onset of dystonia, ataxic gait and seizures. H/o chorea in father at 30 years of age and chorea/ dementia in grandfather in 6th decade.

A. What are the MRI findings?
B. What is the likely diagnosis ?
C. What test you will order to confirm?

2) 8 months-old boy presented with Global developmental delay. Birth and perinatal history was normal. History of passing orange crystals in urine (image below). On examination, there is hypotonia and brisk DTRs.

A. Which simple lab investigation can help in diagnosis?
B. Two clinical features child likely to develop?
C. Which chromosome is involved?

3) 9 month old boy with GDD (motor > social), normal vision and hearing. On examination- Hypotonia; DTR normal. CPK- normal.

A. What are the MRI findings?
B. Which gene is involved ?
C. Which infectious disorder may mimic the radiological picture?

 

4) 5 year-old boy presented with difficulty in getting up and climbing stairs since 3 months. He has rash over face and hands; his serum CPK is 2000.

A. What are the Findings?
B. Probable Diagnosis?
C. Which radiological investigation could support your diagnosis?
D. Immediate and long term management?

5) 8 month-old child was brought with complaint of smaller left eye (image below):

A. What are the findings shown?
B. What is the localization of the lesion?
C. What are the eye findings to help differentiate congenital from acquired etiology?
D. Work up for which tumor should be done in this child?

Quiz 1 Answers

 

Q 1: 1.Aicardi Goutieres syndrome
    2.a.Leukoencephalopathy-High signal (T2/ FLAIR) in perventricular white matter, b. Calcification of BG, thalamus and white
matter c. Cystic changes and atrophy
    3. SAMHD1 mutation

Q2: 1. Double or repetitive CMAP
2. Congenital myasthenia- slow channel syndrome or end-plate AChE deficiency
3. Pyridostigmine

Q3: 1. Hip abductor sign
2. Sarcoglycanopathies
3. Dr Khadilkar

Q4: 1. Discontinuous pattern
2. Burst suppression
3. Low voltage or flat trace