Monday, June 2, 2014

Tooth in the Brain

This axial MRI image is at the level of the superior cerebellar peduncles. The patient is a child with ataxia and developmental delay. His medical history is notable for polydactyly, hypotonia, neonatal respiratory dysregulation, and abnormal eye movements.

Challenge: What's your diagnosis?

Image is shown under Fair Use.


Anonymous said...

Looks like Joubert Syndrome to me?

Anonymous said...

Joubert syndrome

Craig Chen said...

nice job! i hadn't even heard of this one
Tooth in the Brain

This is Joubert syndrome, an autosomal recessive disorder characterized by cerebellar vermis hypoplasia. The MRI shows abnormally increased depth of the interpeduncular fossa, narrowing of the midbrain tegmentum, and thickening of the superior cerebellar peduncles, all contributing to the radiologic feature called the "molar tooth sign."

Source: UpToDate.