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Diseases

Genetic and Rare Diseases Information Center (GARD)

Shapiro syndrome


Other Names for this Disease
  • Shapiro's syndrome
  • Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum
  • Spontaneous periodic hypothermia syndrome
  • Spontaneous recurrent hypothermia syndrome
  • Spontaneous periodic hypothermia
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Overview

Shapiro syndrome is a rare neurological disease characterized by recurrent episodes of excessive sweating and hypothermia along with agenesis of the corpus callosum.[1][2][3] 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; the reason for the variations in the episodes is not yet known. The cause of the condition is currently unknown; however, suggested possible mechanisms include hypothalamic dysfunction, neurochemical abnormalities, inflammatory processes, and epileptic activity.[1] Treatment aims to address the symptoms present in each individual and may include re-warming with a warm blanket and the use of medications with varying success.[1][3]
Last updated: 6/6/2016

References

  1. Duman O. Spontaneous periodic hypothermia. Orphanet. December 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=29822.
  2. Tambasco N, Belcastro V, Prontera P, Nigro P, Donti E, Rossi A, Calabresi P. Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.. Eur J Paediatr Neurol. 2014 Jul; 18(4):453-7. https://www.ncbi.nlm.nih.gov/pubmed/24594427.
  3. Topcu Y, Bayram E, Karaoglu P, Yis U, Kurul SH. The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome.. Ann Indian Acad Neurol. 2013 Oct; 16(4):716-9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841640/.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Shapiro syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Shapiro's syndrome
  • Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum
  • Spontaneous periodic hypothermia syndrome
  • Spontaneous recurrent hypothermia syndrome
  • Spontaneous periodic hypothermia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.