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.
Posts
3 comments:
Looks like Joubert Syndrome to me?
Joubert syndrome
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.
Post a Comment