E-ISSN: 1305-3612
Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders
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Neuroradiology - Original Article
VOLUME: 16 ISSUE: 1
P: 3-6
March 2010

Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders

Diagn Interv Radiol 2010;16(1):3-6
DOI: 10.4261/1305-3825.DIR.2673-09.1
Efsun U. Şenocak 1
Kader Karlı Oğuz 2
Göknur Haliloğlu 3
Meral Topçu 3
Ayşenur Cila 2
1. Departments of Radiology Hacettepe University School of Medicine, Ankara, Turkey
2. Departments of Radiology, Hacettepe University School of Medicine, Ankara, Turkey
3. Departments of Pediatric Neurology Hacettepe University School of Medicine, Ankara, Turkey
No information available.
No information available
Received Date: 12.02.2009
Accepted Date: 02.06.2009
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ABSTRACT

CONCLUSION

Structural abnormalities associated with the MTS are not rare, and the additional imaging findings may help explain the neurological presentation in these patients.

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.

MATERIALS AND 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.

PURPOSE

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.