title: Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.
abstract: We describe a 16-month-old girl with Joubert's syndrome (JS), congenital ocular fibrosis, and histidinemia. Abnormal respiration, ptosis, and minimal eye movements were observed in the neonatal period. Intraoperative examination of the eyes later demonstrated severely restricted eye movements and abnormal insertions and fibrosis of the extraocular muscles. Computed tomography of the head revealed absence of the corpus callosum and brain stem. Histidine levels were elevated in the blood, urine, and cerebrospinal fluid. The patient was ataxic and developmentally delayed. To our knowledge, the association of JS with congenital ocular fibrosis has not previously been described. This report indicates that jerky eye movements are not an invariable finding in JS.
authors: Department of Paediatrics, University of British Columbia, Grace Hospital, Vancouver, Canada.
authors: R E
authors: RE
authors: Appleton
authors: D
authors: D
authors: Chitayat
authors: J E
authors: JE
authors: Jan
authors: R
authors: R
authors: Kennedy
authors: J G
authors: JG
authors: Hall
mesh_terms: D001259:Ataxia / Q000150:complications*; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002658:Developmental Disabilities / Q000150:complications*; D005260:Female; D005355:Fibrosis; D006639:Histidine / Q000097:blood*; D006801:Humans; D007223:Infant; D009135:Muscular Diseases / Q000150:complications; D009801:Oculomotor Muscles / Q000473:pathology; D011597:Psychomotor Performance; D012120:Respiration Disorders / Q000150:complications*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
chemical_list: D006639:Histidine