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