RT Journal Article
SR Electronic
T1 Joubert syndrome labeled as hypotonic cerebral palsy
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 233
OP 235
VO 19
IS 3
A1 Dekair, Lubna H.
A1 Kamel, Hussein
A1 El-Bashir, Haitham O.
YR 2014
UL http://nsj.org.sa/content/19/3/233.abstract
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.