Open AccessThe management of Joubert Syndrome in Physical Medicine and Rehabilitation department
Author(s) -
M. Sghir,
Aymen Haj Salah,
E. Turki,
Mariem Rekik,
Saida jerbi,
W. Kessomtini
Publication year - 2016
Publication title -
journal of medical research
Language(s) - English
Resource type - Journals
ISSN - 2395-7565
DOI - 10.31254/jmr.2016.2404
Subject(s) - joubert syndrome , medicine , hypotonia , cerebellar vermis , ataxia , hyperpnea , magnetic resonance imaging , agenesis , pediatrics , anatomy , cerebellum , radiology , psychiatry , respiratory system , biology , cilium , microbiology and biotechnology
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.