Joubert syndrome: Review and report of five cases from India

Article type: Research Article

Authors: Singhi, Pratibha | Mahajan, Vikas | Hiremath, Gurumurthy M.

Affiliations: Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Note: [] Correspondence: Pratibha Singhi, M.D., Professor and Chief, Department of Pediatric Neurology, Advanced Pediatric Centre, PGI Chandigarh, India. Tel.: +91 172 2755304; Fax: +91 172 2744401; E-mail: [email protected]

Abstract: Joubert syndrome is an autosomal recessive complex malformation of brain particularly involving the cerebellum and brain stem. Agenesis or dysgenesis of cerebellar vermis and the presence of "molar tooth sign" on axial magnetic resonance imaging are characteristically seen. The main clinical features include hypotonia, developmental delay, abnormal respiratory pattern of alternating episodic tachypnea, hyperpnea and apnea and oculomotor apraxia. We present clinical characteristics of five cases of Joubert syndrome with a review of literature.

Keywords: Joubert syndrome, child, India

Journal: Journal of Pediatric Neurology, vol. 5, no. 4, pp. 317-321, 2007