Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders.
OBJECTIVE
We performed a retrospective study in which we investigated malformations other than brainstem and vermian dysgenesis in Joubert syndrome-related disorders (JSRD). We investigated the frequency and type of structural abnormalities that coexist with the molar tooth sign (MTS) in JSRD.


METHODS
We searched our archive for the years 2002-2008 in order to find patients with the diagnosis of JSRD. Cranial magnetic resonance imaging studies of 20 patients with the diagnosis of JSRD were reviewed by two neuroradiologists.


RESULTS
In addition to known anomalies including callosal dysgenesis, heterotopia, polymicrogyria, atretic encephalocele, hypomyelination, and nonobstructive dilatation of lateral ventricles; malformations that have not been previously reported were determined, including cerebellar folial disorganization, hippocampal malformation, temporal lob hypoplasia, ambient cistern lipoma, and parenchymal cyst.


CONCLUSIONS
Structural abnormalities associated with the MTS are not rare, and the additional imaging findings may help explain the neurological presentation in these patients.
Senocak
Efsun U
EU
Department of Radiology, Hacettepe University School of Medicine, Ankara, Turkey. eurger@yahoo.com
Oğuz
Kader Karli
KK
Haliloğlu
Göknur
G
Topçu
Meral
M
Cila
Ayşenur
A
D000293:Adolescent; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008963:Molar / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome