Rett syndrome: New observations

Sakkubai Naidu, Subroto Chatterjee, Mary Murphy, Sumio Uematsu, Michel Phillapart, Hugo Moser

Research output: Contribution to journalArticle

Abstract

Two elderly females with Rett syndrome are reported with evidence of a slowly progressive central and distal peripheral nervous system involvement. Thermography in 4 girls confirmed distal hypothermia of the extremities in a glove and stocking distribution. Unilateral sympathectomy during surgery for scoliosis in one of them resulted in increased warmth and physical growth of the foot and nails, compared to the uninjured side. This suggests increased sympathetic tone as the probable cause of distal hypothermia, vasomotor instability and dystrophy of the feet in this disorder. In an attempt to identify a marker, girls with clinically classical Rett syndrome had plasma and urinary cell evaluation for an unusual glycolipid. A blind study using a small number of patients failed to prove absolute specificity and additional studies are required to evaluate its validity as a marker for Rett syndrome.

Original languageEnglish (US)
Pages (from-to)525-528
Number of pages4
JournalBrain and Development
Volume9
Issue number5
DOIs
StatePublished - 1987

Keywords

  • Elderly Rett
  • glycolipid abnormality
  • sympathetic neuropathy
  • telethermography

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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  • Cite this

    Naidu, S., Chatterjee, S., Murphy, M., Uematsu, S., Phillapart, M., & Moser, H. (1987). Rett syndrome: New observations. Brain and Development, 9(5), 525-528. https://doi.org/10.1016/S0387-7604(87)80078-5