NEUROLOGIC ANOMALIES OF PERRAULT SYNDROME

We report on an 18-year-old man with neurosensory hearing loss and his sister with neurosensory hearing loss, ovarian dysgenesis, mental ret ardation, generalized ataxia of the trunk and limbs, and saccadic dysm etria. A CT scan showed cerebellar hypoplasia. The cardinal manifestat ions of Perrault syndrome in females are neurosensory hearing loss and ovarian dysgenesis. Other anomalies, including neurologic and skeleta l, have been reported in other individuals with Perrault syndrome, We review the neurologic anomalies in previous patients with Perrault syn drome. Neurologic data are available on 14 of 21 girls; 7 of 14 had ne urologic abnormalities, The high incidence of neurologic anomalies sug gest that ataxia or mental retardation may not be just coincidental fi ndings, but pleiotropic manifestations of Perrault syndrome. (C) 1996 Wiley-Liss, Inc.