J Korean Radiol Soc.  1994 May;30(5):947-952.

Joubert Syndrome: Clinical Manifestations and Magnetic Resonance Imaging

• Kim SC
• Kim WS
• Kim IO
• Yeon KM
• Song JG
• Yoon YK
• Hwang YS

Abstract

PURPOSE
Joubert syndrome presents neonatal respiratory abnormalities and other clinical manifestations. Pathologically the patients show hypoplasia or agenesis of cerebellar vermis and other intracranial anomalies. Our purpose is to evaluate the clinical manifestations and MR findings of Joubert syndrome.
MATERIALS AND METHODS
Among the patients presenting with clinical stigmata of Joubert syndrome and agenesis of vermis on MR imaging, eight patients who did not satisfied the criteria of Dandy-Walker malformation, tectocerebellar dysraphia and rhombencephalosynapsis were selected. MR findings and clinical manifestation were analyzed.
RESULTS
On MR imaging, agenesis of the cerebellar vermis (all cases), hypoplasia of the cerebellar peduncle (6cases), fourth ventricular contour deformity(6cases), tentorial elevation (4cases), deformity of the lateral ventricles (4cases), dysgenesis of the straight sinus (3cases) were demonstrated. Other findings were abnormalities of corpus callosum (3cases), falx anomalies (3 cases), occipital encephalomeningocele (2 cases) and fluid collection in posterior cranial fossa (2cases). Clinical manifestations were developmental delay (5cases), abnormal eyeball movement (3cases), hypotonia (2 cases), neonatal rerspiratoy abnormality (2cases), etc.
CONCLUSION
Joubert syndrome showed various clinical manifestations and intracranial anomalies. MR imaging is an useful modality in detection of the cerebellar vermian agenesis and other anomalies of the patients.

MeSH Terms

Christianity
Congenital Abnormalities
Corpus Callosum
Cranial Fossa, Posterior
Dandy-Walker Syndrome
Humans
Lateral Ventricles
Magnetic Resonance Imaging*
Muscle Hypotonia