A 3 and half months old boy with bilateral cataracts

Dr  Ira Shah

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A 3½ months old boy with bilateral cataracts.

Dr Ira Shah.

Medical Sciences Department, Pediatric Oncall, Mumbai, India.

ADDRESS FOR CORRESPONDENCE
Dr Ira Shah, Medical Sciences Department, Pediatric Oncall, 1, B Saguna, 271, B St. Francis Road, Vile Parle {W}, Mumbai 400056.

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Clinical Problem
A 3½ months old boy born of consanguineous marriage presented with bilateral cataracts since birth. Birth was uneventful and mother had no fever antenatally. His milestones were normal. On examination, he was well grown and had a weight of 5.5 kg. He had bilateral cataracts and systemic examination was normal.

Investigations showed:
• TORCH – IgM & IgG for CMV, Rubella, Herpes, Syphilis, Toxoplasma – Negative
• Urine for reducing substance – Negative
• Urine Aminoacido gram/Plasma aminoacidogram – Normal
• Urine routine – Normal
• Serum calcium = 9.3 mg/dl
• Serum phosphorus = 4.4 mg/dl
• Serum alkaline phosphatase = 672 IU/ml (Normal)
• Venous blood gas = No metabolic acidosis

What is the cause of his cataracts?

Discussion
Dr. Ira Shah :
The common causes of cataracts in infant would be:
• Prematurity
• Intrauterine infection especially rubella
• Galactosemia
• Hyperparathyroidism
• Lowe’s syndrome
• Syndromic.

This child was a full term delivery and TORCH reports were negative. Thus prematurity and intrauterine infections seem unlikely. Also his serum calcium, phosphorus and alkaline phosphatase are normal, thus hyperparathyroidism is also ruled out. The child does not have any dysmorphic features and milestones are normal, thus syndromic variety of the cause of cataracts seems unlikely. Lowe’s syndrome would present with proximal renal tubular acidosis especially Fanconi’s syndrome with mental retardation and cataracts. This child’s venous blood gas does not show acidosis and his milestones are also normal and urine examination does not show glucosuria, proteinuria or aminoaciduria ruling out Lowe’s syndrome. Even if urine examination does not show reducing substance, Galactosemia is still a possibility especially Type 2 Galactosemia which may just present with cataracts and no hepatic or systemic manifestations. In this child, a galactokinase enzyme estimation would be required to prove Type 2 Galactosemia. In this child Galactokinase deficiency was proved by enzyme estimation.
Treatment for Type 2 Galactosemia is cataract surgery and galactose free diet. Prognosis is good as systemic manifestations are absent.

Compliance with ethical standards

Funding: None

Conflict of Interest: None

Cite this article as:
Shah I. A 3 and half months old boy with bilateral cataracts. Pediatr Oncall J. 2006;3: 58.