Joubert syndrome labeled as hypotonic cerebral palsy

Authors

• Lubna H. Dekair
• Hussein Kamel
• Haitham O. El-Bashir

Abstract

Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements. The brain MRI confirmed the typical brain malformations.

Article Type

Case Report

First Page

233

Last Page

235

Recommended Citation

Dekair, Lubna H.; Kamel, Hussein; and El-Bashir, Haitham O. (2014) "Joubert syndrome labeled as hypotonic cerebral palsy," Neurosciences: Vol. 19: Iss. 3, Article 11.
DOI: https://doi.org/10.17712/1658-3183.2089