PT  - JOURNAL ARTICLE
AU  - Dekair, Lubna H.
AU  - Kamel, Hussein
AU  - El-Bashir, Haitham O.
TI  - Joubert syndrome labeled as hypotonic cerebral palsy
DP  - 2014 Jul 01
TA  - Neurosciences Journal
PG  - 233--235
VI  - 19
IP  - 3
4099  - http://nsj.org.sa/content/19/3/233.short
4100  - http://nsj.org.sa/content/19/3/233.full
SO  - Neurosciences (Riyadh)2014 Jul 01; 19
AB  - 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.