title: Joubert syndrome labeled as hypotonic cerebral palsy.
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.
authors.affiliation: Children`s Rehabilitation Section, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
authors.forename: Lubna H
authors.initials: LH
authors.lastname: Dekair
authors.forename: Hussein
authors.initials: H
authors.lastname: Kamel
authors.forename: Haitham O
authors.initials: HO
authors.lastname: El-Bashir
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology* / Q000002:abnormalities; D002547:Cerebral Palsy / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D012160:Retina / Q000002:abnormalities* / Q000473:pathology