Case of the Month: May, 2012

Submitted by Avetis Azizyan, MD, and Marcel Maya, MD .

History: 5 year old male presents with developmental and speech delay, “a clumsy run” and macrocephaly. After obtaining an abnormal, yet non-specific CT of the brain, MRI imaging of the brain and spine was performed.

(Click here for larger image.)

(Click here for larger image.)

Question: What do these imaging findings suggest?

  1. Gaucher disease
  2. Marfan’s syndrome
  3. Down’s syndrome
  4. Mucopolysaccharidosis
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