The clinical pattern of the Rett syndrome

Brain Dev. 1985;7(3):320-5. doi: 10.1016/s0387-7604(85)80037-1.

Abstract

A case of infantile spasms who developed later on many characteristics of Rett syndrome is described. Rett syndrome was also observed in two sisters. This will probably have great importance for genetic counselling.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Ammonia / blood
  • Ataxia / diagnosis
  • Child
  • Child Development
  • Child, Preschool
  • Dementia / diagnosis
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Microcephaly / diagnosis
  • Neurocognitive Disorders / diagnosis*
  • Neurocognitive Disorders / genetics
  • Spasms, Infantile / diagnosis
  • Stereotyped Behavior*
  • Syndrome

Substances

  • Ammonia