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European Journal of General Medicine
Medical Investigations Society
ISSN: 1304-3897
Vol. 6, No. 2, 2009, pp. 119-122
Bioline Code: gm09026
Full paper language: English
Document type: Case Report
Document available free of charge

European Journal of General Medicine, Vol. 6, No. 2, 2009, pp. 119-122

 en A Turkish Adulthood Joubert Syndrome and Review of the Literature
Zenger, Mehmet Noyan; Kabatas, Serdar; Baykiz, Ali Fuat & Teng, Yang D.

Abstract

Joubert Syndrome (JS) in adult population is extremely rare. Here, we describe the first adult case seen in the Republic of Turkey. Our patient, a 19-year-old male, was diagnosed primarily by magnetic resonance imaging (MRI) finding of the typical “molar tooth sign”, in addition to JS clinical features such as mental retardation, hypotonia, dysarthria, nystagmus and ataxia. Detailed images of high resolution MRI, a review of the literature and a brief discussion are reported.

Keywords
Adult, Joubert Syndrome, MRI

 
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