Rare Endocrinology News

Disease Profile

Shapiro syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

All ages

ageofonset-all.svg

ICD-10

G90.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Shapiro's syndrome; Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum; Spontaneous periodic hypothermia syndrome;

Categories

Nervous System Diseases

Summary

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]

Symptoms

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] 

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.

Medical Terms Other Names
Learn More:
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

Treatment

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.

Organizations

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

    Learn more

    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.

      References

      1. Duman O. Spontaneous periodic hypothermia. Orphanet. December 2013; https://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.

      Rare Endocrinology News