European Journal of General Medicine
Medical Investigations Society
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
© Copyright 2009 - Medical Investigations Society
A Turkish Adulthood Joubert Syndrome and Review of the Literature|
Zenger, Mehmet Noyan; Kabatas, Serdar; Baykiz, Ali Fuat & Teng, Yang D.
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.
Adult, Joubert Syndrome, MRI
Alternative site location: http://www.ejgm.org