title: Perrault syndrome: evidence for progressive nervous system involvement.
abstract: Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. More recent studies have asked whether the neurological signs in some of the patients are a coincidental finding or part of the syndrome. We report on two pairs of sisters with gonadal dysgenesis and deafness, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy. This observation constitutes further evidence of peripheral nervous system involvement in PS. Based on the clinical observations of known patients, two forms of PS may be distinguished: one apparently non-progressive form and another (exemplified by our two sets of sisters) with apparently progressive axonal-cerebellar degeneration.
authors.affiliation: Pediatric Neurology, Department of Pediatrics, University of Catania, Italy. afiumara@katamail.com
authors.forename: Agata
authors.initials: A
authors.lastname: Fiumara
authors.forename: Giovanni
authors.initials: G
authors.lastname: Sorge
authors.forename: Antonio
authors.initials: A
authors.lastname: Toscano
authors.forename: Enrico
authors.initials: E
authors.lastname: Parano
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pavone
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D000328:Adult; D003638:Deafness / Q000175:diagnosis*; D005260:Female; D006059:Gonadal Dysgenesis / Q000175:diagnosis*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis*; D006801:Humans; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D017933:Peripheral Nervous System / Q000002:abnormalities; D013577:Syndrome