Perrault Syndrome with progressive nervous system involvement

Clin Nucl Med. 2008 Dec;33(12):922-4. doi: 10.1097/rlu.0b013e31818c4e25.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / pathology*
  • Adult
  • Female
  • Fluorodeoxyglucose F18
  • Humans
  • Magnetic Resonance Imaging
  • Nervous System / diagnostic imaging
  • Nervous System / pathology*
  • Positron-Emission Tomography
  • Syndrome

Substances

  • Fluorodeoxyglucose F18