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?
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Looks like Joubert Syndrome to me?
ReplyDeleteJoubert syndrome
ReplyDeletenice job! i hadn't even heard of this one
ReplyDelete-
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.