Joubert Syndrome: Clinical Manifestations and Magnetic Resonance Imaging.
10.3348/jkrs.1994.30.5.947
- Author:
Seung Cheol KIM
;
Woo Sun KIM
;
In One KIM
;
Kyung Mo YEON
;
Jong Gi SONG
;
Yong Kyu YOON
;
Yong Seung HWANG
- Publication Type:Original Article
- MeSH:
Christianity;
Congenital Abnormalities;
Corpus Callosum;
Cranial Fossa, Posterior;
Dandy-Walker Syndrome;
Humans;
Lateral Ventricles;
Magnetic Resonance Imaging*;
Muscle Hypotonia
- From:Journal of the Korean Radiological Society
1994;30(5):947-952
- CountryRepublic of Korea
- Language:Korean
-
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.
