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Diagn Interv Radiol. 2010 Mar;16(1):3-6. doi: 10.4261/1305-3825.DIR.2673-09.1. Epub 2010 Jan 27.

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

Author information

1
Department of Radiology, Hacettepe University School of Medicine, Ankara, Turkey. eurger@yahoo.com

Abstract

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.

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.

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.

CONCLUSION:

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

PMID:
20108204
DOI:
10.4261/1305-3825.DIR.2673-09.1
[Indexed for MEDLINE]
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