National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Shapiro syndrome


Other Names:
Shapiro's syndrome; Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum; Spontaneous periodic hypothermia syndrome; Shapiro's syndrome; Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum; Spontaneous periodic hypothermia syndrome; Spontaneous recurrent hypothermia syndrome; Spontaneous periodic hypothermia See More
Categories:
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
Shapiro syndrome generally consists of three findings: spontaneous periodic hypothermia, excessive sweating (hyperhidrosis), and agenesis of the corpus callosum.[2][3] A variant form occurs without agenesis of the corpus callosum.[2] Additional symptoms may include nausea and vomiting; a sense of weakness, incoordination and gait unsteadiness; drowsiness, mild bradycardia; and rarely, excessive amounts of urine (polyuria) and excessive thirst (polydipsia).[1][4] Episodes of hypothermia and hyperhidrosis may last for hours to weeks and recur for hours to years.[1] 

Last updated: 6/6/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Ataxia 0001251
Fatigue
Tired
Tiredness
[ more ] 		0012378
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] 		0000975
Hypothermia
Abnormally low body temperature
0002045
Nausea and vomiting 0002017
Pallor 0000980
30%-79% of people have these symptoms
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Reduced consciousness/confusion
Disturbances of consciousness
Lowered consciousness
[ more ] 		0004372
Seizure 0001250
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ] 		0002360
Tremor 0001337
5%-29% of people have these symptoms
Abnormal pattern of respiration
Abnormal respiratory patterns
Unusual breathing patterns
[ more ] 		0002793
Aplasia/Hypoplasia of the corpus callosum 0007370
Diarrhea
Watery stool
0002014
Skin rash 0000988
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Last updated: 7/1/2020
Evaluating effective treatment options for Shapiro syndrome can be difficult because of the limited number of diagnosed cases, the periodic nature of the disease, and other factors. Nonetheless, the following have been attempted and have resulted in varying levels of success: oxcarbazepine, carbamazepine, clonidine, cyproheptadine, glycopyrrolate, bromocriptine, chlorpromazine, beta blockers, or sympathectomy.[1][4] It is recommended that treatment options be discussed with a health care professional. Only a patient's personal health care provider can determine the appropriate course of treatment.
Last updated: 6/6/2016
The prevalence of Shapiro syndrome is unknown.[1] To date, over 50 cases have been reported in the medical literature.[1][2]
Last updated: 6/6/2016

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis of SPH severe hypothyroidism, hypoglycemia or attacks of diabetic ketoacidosis.
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My father is 63 years old and suffers from Shapiro syndrome. So far no doctor or treatment plan has helped. The condition and length of time of the attacks continue to get worst. See answer


  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/.
  4. Dundar NL, Boz A, Duman O, Aydin F, Haspolat S. Spontaneous Periodic Hypothermia and Hyperhidrosis. Pediatr Neurol. 2008 Dec; 39(6):438-40. https://www.ncbi.nlm.nih.gov/pubmed/19027594.