Case File 03: A Tall Child with Vision Problems and Leg Swelling

MBBS
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1

A 10-year-old boy presents with blurry vision and painful swelling of the left leg. He is tall, thin, with long fingers, mild scoliosis, and developmental delay.

On examination:

  1. Ectopia lentis on slit lamp
  2. Left leg swollen and tender — Doppler shows DVT

Lab report:

Increase in Methionine levels and urine nitroprusside test is positive

What is the most likely diagnosis and how will you manage this case?

2

It might be Homocystinuria considering

  1. Ectopia lentis (downward)

  2. Tall, thin (marfanoid)

  3. Developmental delay

  4. Lab: ↑ Methionine, + Nitroprusside urine test