Last month’s teaching file:
Query: A 3˝ months old boy presents with bilateral cataracts. His TORCH, Urine Aminoacidogram, Serum calcium and blood gases are normal. What is the diagnosis?
Answer: Prematurity, intrauterine infections, hyperparathyroidism, syndromic variety, Lowe’s syndrome are ruled out. Galactosemia is still a possibility especially Type 2 Galactosemia which may just present with cataracts and no hepatic or systemic manifestations. In this child Galactokinase deficiency was proved by enzyme estimation. Discuss this case further in the section of “DISCUSSION GROUPS”.
http://www.pediatriconcall.com/fordoctor/gd/gdCategoryWise.asp