A 3 year old male child born of non consanguineous marriage presented with bilateral cataracts since 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.
Question :
How to approach such a case_?
Answer
Causes of cataracts in a child are varied and include intrauterine infections, genetic disorders, metabolic disorders, hypoparathyroidism and even prematurity. This child has no prematurity, dysmorphic features or delayed milestones.
Thus, most likely cause of cataract in this child would be metabolic disorder. Common metabolic disorders leading to white cataract are:
• Hypoparathyroidism
• Galactosemia
• Lowe’s syndrome
• Diabetes mellitus
In this child, since there is no jaundice or hepatomegaly, galactosemia type 1 and 3 seem unlikely.
Lowe’s syndrome is associated with RTA and mental retardation.
Diabetes mellitus would have additional features of polyuria, polydipsia. Thus in this child, one must rule out Hypoparathyroidism.
The calcium, phosphorus, alkaline phosphatase in this child was normal. Galactosemia type 2 is a possibility and one must do the galactokinase enzyme levels.
Galactosemia workup for galactokinase deficiency was positive.
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