Joubert's syndrome associated with congenital ocular fibrosis and histidinemia
R. E. Appleton, D. Chitayat, J. E. Jan, R. Kennedy and J. G. Hall
Department of Paediatrics, University of British Columbia, Grace Hospital, Vancouver, Canada.
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.
