Parkinson Hastalığı ve Hareket Bozuklukları Dergisi

Leyli Can AYNAL, Bilge KOÇER, Selim Selçuk ÇOMOĞLU

Ankara Dışkapı Yıldırım Beyazıt Eğitim ve Araştırma Hastanesi Nöroloji Kliniği, Ankara, Türkiye

Keywords: Joubert syndorme in adulthood; Joubert syndrome; molar tooth sign; oculomotor apraxia.

Abstract

A 57-year-old male patient was admitted who was presented with complaints of abnormal eye movements, unsteadiness in walking and speech impairment, and shortness of breath in the form of attacks. Neurological examination revealed mild dysarthria, oculomotor apraxia, rotator nystagmus in eye movements, ataxia, and tandem gait incompetence. Magnetic resonance imaging showed typical molar tooth symptom characterized by atrophy and prolongation of the cerebellar peduncles. Joubert syndrome was considered through clinical and radiological findings. In this article, we discuss the case of Joubert syndrome in adulthood in the light of literature review.