MRI of Joubert's syndrome.

OBJECTIVE

To report five cases of the rare Joubert's syndrome.

SUBJECTS

All five cases were studied by 1.0-Tesla MRI. All the patients showed typical clinical manifestations of Joubert's syndrome including neonatal respiratory abnormalities, developmental delay, ataxia, retinal atrophy and nystagmus.

RESULTS

The T1WI of MRI showed characteristic MRI features of Joubert's syndrome including dilatation of the fourth ventricle with some appearing bat-wing shaped, elongation and stretching of the superior cerebellar peduncles, dysphasia of the vermis, widening of the foramen of Magendie and the posterior cistern. One case was associated with encephalomeningocele.

CONCLUSIONS

MRI can provide characteristic findings of Joubert's syndrome and confirm the clinical diagnosis.