Joubert syndrome

Case contributed by Laura Margarita Sanchez Garcia
Diagnosis almost certain

Presentation

Nystagmus.

Patient Data

Age: 1 year
Gender: Male
mri
This study is a stack
Axial
FLAIR
This study is a stack
Coronal
T2
This study is a stack
Sagittal
T1
This study is a stack
Axial
T2
This study is a stack
Axial
DTI
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Info

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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