Joubert syndrome

Case contributed by Dr Mohammad A. ElBeialy

Presentation

Ataxia, global developmental delay and speech deficits.

Patient Data

Age: 11 years
Gender: Female
Modality: CT

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. 

PlayAdd to Share

Case Information

rID: 38590
Case created: 26th Jul 2015
Last edited: 17th Feb 2016
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.