Rett syndrome: clinical presentation and laboratory investigations in 12 further French patients

Brain Dev. 1985;7(3):305-6. doi: 10.1016/s0387-7604(85)80033-4.

Abstract

Twelve French patients with the Rett syndrome collected since July 1982 are reported. They confirm the stereotyped clinical presentation of the syndrome which represented 22% of the whole progressive encephalopathies referred to our hospital in the same period and 55% of the progressive encephalopathies of unknown etiology. Metabolic investigations have been constantly negative.

MeSH terms

  • Adolescent
  • Autistic Disorder / diagnosis
  • Child
  • Child Development
  • Child, Preschool
  • Dementia / diagnosis
  • Electroencephalography
  • Female
  • Humans
  • Infant
  • Intellectual Disability / diagnosis*
  • Microcephaly / diagnosis
  • Neurocognitive Disorders / diagnosis*
  • Stereotyped Behavior*
  • Syndrome