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May 1989

Joubert's Syndrome Associated With Congenital Ocular Fibrosis and Histidinemia

Author Affiliations

From the Division of Neurology, Department of Paediatrics (Mr Appleton and Dr Jan), and the Department of Ophthalmology (Dr Kennedy), University of British Columbia, and the University of British Columbia Clinical Genetics Unit, Grace Hospital (Drs Chitayat and Hall), Vancouver.

Arch Neurol. 1989;46(5):579-582. doi:10.1001/archneur.1989.00520410115035

• 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.

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