title: Perrault Syndrome with progressive nervous system involvement.
abstract: A 21-year-old woman with a Perrault Syndrome (PS) presented with progressive ataxia. PS comprises gonadal dysgenesis and sensorineural deafness in females. More recent studies have asked whether the neurologic signs in some of the patients are a coincidental finding or part of the syndrome. Magnetic resonance imaging in PS patients shows high intensity signals in the periventricular and the subcortical white substance, as well as in the centrum ovale, suggestive for cerebral leucodystrophy, which is one of a wide spectrum of neurologic symptoms found in PS. The fluorodeoxyglucose positron emission tomography (PET) of our patient brought results indicating a progressive heredoataxia. PET is helpful in the early detection of the progressive central nervous involvement of PS.
authors.affiliation: Department of Nuclear Medicine, University of Cologne, Cologne, Germany. carsten.kobe@uk-koeln.de
authors.forename: Carsten
authors.initials: C
authors.lastname: Kobe
authors.forename: Lutz W
authors.initials: LW
authors.lastname: Kracht
authors.forename: Lars
authors.initials: L
authors.lastname: Timmermann
authors.forename: Juliane
authors.initials: J
authors.lastname: Bachmann
authors.forename: Matthias C
authors.initials: MC
authors.lastname: Schmidt
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D000328:Adult; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D008279:Magnetic Resonance Imaging; D009420:Nervous System / Q000000981:diagnostic imaging / Q000473:pathology*; D049268:Positron-Emission Tomography; D013577:Syndrome
chemical_list: D019788:Fluorodeoxyglucose F18