Joubert syndrome

Case contributed by Dr Mohammad A. ElBeialy


Ataxia, global developmental delay and speech deficits.

Patient Data

Age: 11 years
Gender: Female

Aplasia or severe hypoplasia of the cerebellar vermis.

Abnormal posterior fossa with bat wing configuration of the 4th ventricle and molar tooth appearance of the midbrain due to prominently thickened and elongated superior cerebellar peduncles. 

Case Discussion

Joubert's syndrome, cerebellar vermian aplasia or molar tooth midbrain malformation is a rare autosomal recessive disorder with aplasia of the superior cerebellar vermis presenting with ataxia, nystagmus and delayed motor development. Other associated anomalies in Joubert syndrome related disorders (JSRD) may include retinal coloboma and multicystic kidney disease. 

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Case information

rID: 38590
Published: 15th Aug 2015
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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