Diagnostic Dilemma

Delayed development with light hair


Author: Pediatric Oncall
Question
A 2 years old boy born of non-consanguineous marriage presented with cough and fever for 7 days. There is no history of contact with TB. He also has delayed milestones and is not able to sit, roll over, hold head or even babble. Birth was uneventful and there is no seizure or any mental retardation in the family. On examination, he was fair with light hair (Both parents are dark. However maternal aunt is fair), had microcephaly, microphthalmia, hypotonia with brisk reflexes. Pupils were normal. There was no red reflex. There was no organomegaly. Child was investigated and MRI brain, serum ammonia, blood gases, blood sugar and eye evaluation were normal. Chest X-Ray showed right lower zone pneumonia.

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