Joubert syndrome

Case contributed by Dr Laura Sanchez Garcia

Presentation

Nystagmus.

Patient Data

Age: 1 year
Gender: Male
MRI

Elongated superior cerebellar peduncles give the midbrain the appearance of a molar tooth.

Aplastic cerebellar vermis and diminished volume of the left cerebral peduncle.

Absence of fiber decussation in the superior cerebellar peduncles and pyramidal tracts.

Case Discussion

The molar tooth sign was initially described in Joubert syndrome and related disorders (JSRD).

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Case information

rID: 70121
Published: 2nd Oct 2019
Last edited: 1st May 2021
Inclusion in quiz mode: Excluded

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