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Rett syndrome: new observations.

S Naidu1, S Chatterjee, M Murphy

  • 1Kennedy Institute for Handicapped Children, Baltimore, MD 21205.

Brain & Development
|January 1, 1987
PubMed
Summary
This summary is machine-generated.

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Rett syndrome involves progressive nervous system damage, causing cold extremities due to sympathetic nerve overactivity. Further research is needed to validate a potential glycolipid marker for this rare neurodevelopmental disorder.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Rett syndrome is a rare neurodevelopmental disorder primarily affecting females.
  • Patients often exhibit progressive neurological deterioration.
  • Peripheral nervous system involvement, including vasomotor dysfunction, is increasingly recognized.

Purpose of the Study:

  • To investigate the role of sympathetic nervous system overactivity in distal hypothermia in Rett syndrome.
  • To evaluate a potential glycolipid biomarker for diagnosing Rett syndrome.

Main Methods:

  • Thermographic assessment of extremity temperature in girls with Rett syndrome.
  • Observation of temperature and physical changes post-unilateral sympathectomy.
  • Plasma and urinary glycolipid analysis in a cohort of patients with clinically diagnosed Rett syndrome.

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Main Results:

  • Distal hypothermia in a glove-and-stocking distribution was observed in 4 patients.
  • Unilateral sympathectomy led to increased foot warmth and improved nail growth on the operated side.
  • A potential glycolipid marker showed insufficient specificity in a small, blinded study.

Conclusions:

  • Increased sympathetic tone is implicated in the peripheral vasomotor instability and dystrophy seen in Rett syndrome.
  • The evaluated glycolipid marker requires further investigation for diagnostic validity in Rett syndrome.
  • Peripheral nervous system dysfunction is a significant, treatable component of Rett syndrome.