Shapiro syndrome

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The Shapiro syndrome is a rare disorder consisting of paroxysmal hypothermia (due to hypothalamic dysfunction of thermoregulation), epilepsy, and agenesis of the corpus callosum with onset typically on adulthood. The disease affects about 20 people worldwide. The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and occurring from hours to years. Very little is known about the disease due to the small number of people affected.[1]

References[edit]

  1. ^ Shapiro Syndrome, Genetic and Rare Diseases Information Center (GARD), National Institutes of Health

Further reading[edit]

  • "Shapiro syndrome" Shenoy C. QJM. 2008 Jan;101(1):61-2. PMID 18203725
  • "Shapiro syndrome with hypothalamic hypothyroidism" Arkader R, Takeuchi CA. Arq Neuropsiquiatr. 2008 Jun;66(2B):418-9. PMID 18641886
  • "Subtotal corpus callosum agenesis with recurrent hyperhidrosis-hypothermia (Shapiro syndrome)" Tambasco N, Corea F, Bocola V. Neurology. 2005 Jul 12;65(1):124. PMID 16009897