A Case Report on Joubert Syndrome: Molar Tooth Sign of the Mid-Brain
Enes Tarık İnci *
Department of Neurology, Ankara Training and Research Hospital, Ankara, Turkey.
Tahir Kurtuluş Yoldaş
Department of Neurology, Ankara Training and Research Hospital, Ankara, Turkey.
*Author to whom correspondence should be addressed.
Abstract
Joubert syndrome (JS) is a rare autosomal recessive disease characterized by the finding of molar tooth in the brain stem. The diagnosis of the disease is made by characteristic clinical findings and cranial magnetic resonance imaging (MRI). Although clinical features appear in the neonatal period, the diagnosis can usually be made years later.
Keywords: Joubert syndrome, molar tooth sign, ataxia, hypotonia, ocular motor apraxia