The management of Joubert Syndrome in Physical Medicine and Rehabilitation department

Abstract

Since Joubert et al. first described a familial syndrome comprised of agenesis of the cerebellar vermis, episodic hyperpnea and apnea, abnormal eye movements, ataxia, and retardation associated with genesis of the cerebellar vermis, several additional cases have been reported from various parts of the world. Other abnormalities have been associated with Joubert syndrome, such as an occipital meningocele, polydactyly, facial asymmetry, and chorioretinal coloboma. We report the case of a 4-year-old male, referred to our rehabilitation department with a history of hypotonia and delayed psychomotor development. Cerebral magnetic resonance imaging (MRI) led to the clinical diagnosis of Joubert Syndrome.