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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hypothalamic hamartomas


Other Names for this Disease
  • Hamartoma of the hypothalamus
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Overview

Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas.[1] Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling.  For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or  thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. [1][2][3]
Last updated: 6/22/2016

References

  1. Kerrigan, John. Hypothalamic Hamartoma. National Organization of Rare Disorders (NORD). 2012; http://rarediseases.org/rare-diseases/hypothalamic-hamartoma/. Accessed 6/22/2016.
  2. Understanding HH. Hope for Hypothalamic Hamartoma. http://www.hopeforhh.org/what-is-hh/. Accessed 6/22/2016.
  3. Hypothalamic Hamartoma. Barrow Neurological Institute. September 8, 2015; https://www.barrowneuro.org/specialty/hypothalamic-hamartoma/. Accessed 6/22/2016.
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Basic Information

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypothalamic hamartomas. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hamartoma of the hypothalamus
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.