Shapiro syndrome is an extremely rare disorder consisting of
paroxysmal
Paroxysmal attacks or paroxysms (from Greek παροξυσμός) are a sudden recurrence or intensification of symptoms, such as a spasm or seizure. These short, frequent symptoms can be observed in various clinical conditions. They are usually ...
hypothermia
Hypothermia is defined as a body core temperature below in humans. Symptoms depend on the temperature. In mild hypothermia, there is shivering and mental confusion. In moderate hypothermia, shivering stops and confusion increases. In severe h ...
(due to
hypothalamic
The hypothalamus () is a part of the brain that contains a number of small nuclei with a variety of functions. One of the most important functions is to link the nervous system to the endocrine system via the pituitary gland. The hypothalamus i ...
dysfunction of
thermoregulation
Thermoregulation is the ability of an organism to keep its body temperature within certain boundaries, even when the surrounding temperature is very different. A thermoconforming organism, by contrast, simply adopts the surrounding temperature ...
),
hyperhydrosis
Hyperhidrosis is a condition characterized by abnormally increased sweating, in excess of that required for regulation of body temperature. Although primarily a benign physical burden, hyperhidrosis can deteriorate quality of life from a psychologi ...
(sweating), and
agenesis of the corpus callosum
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres ...
with onset typically on adulthood. The disease affects about 50 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.
Shapiro Syndrome
Genetic and Rare Diseases Information Center (GARD), National Institutes of Health
The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...
References
Further reading
* "Shapiro syndrome" Shenoy C. ''QJM''. 2008 Jan;101(1):61-2.
* "Shapiro syndrome with hypothalamic hypothyroidism" Arkader R, Takeuchi CA. ''Arq Neuropsiquiatr''. 2008 Jun;66(2B):418-9.
* "Subtotal corpus callosum agenesis with recurrent hyperhidrosis-hypothermia (Shapiro syndrome)" Tambasco N, Corea F, Bocola V. ''Neurology''. 2005 Jul 12;65(1):124.
External links
Neurological disorders
Rare syndromes
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