| 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
|
