Diagnostic Dilemma

Bilateral cataracts


Author: Pediatric Oncall
Question
A 3-year-old male child born of non-consanguineous marriage presented with bilateral cataracts for 10 months. Birth history and milestones were normal. There was no jaundice, failure to thrive, or dysmorphic features. On examination, apart from bilateral white reflex, other systems were normal. An investigation for urine-reducing substances was positive. Liver function, renal function, blood gases, calcium, phosphorus, alkaline phosphatase were normal.

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