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Hypothalamic Hamartoma

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Hypothalamic Hamartoma is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • HH (hypothalamic hamartoma)
  • hypothalamic hamartoblastoma

Disorder Subdivisions

  • central precocious puberty
  • epilepsy and related neurobehavioral symptoms

General Discussion

Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. They are non-progressive lesions and do not expand, spread or metastasize to other locations. They grow in proportion to normal brain growth, and consequently their relative size to the rest of the brain is the same for the lifetime of the patient when viewed with serial imaging. There is tremendous diversity in the type and severity of symptoms from patient to patient. However, symptoms are apparent during childhood in the overwhelming majority of patients. Although significant overlap exists, two clinical phenotypes of HH are recognized: Central precocious puberty and epilepsy and related neurobehavioral symptoms.

For those with central precocious puberty only, symptoms may occur as early as 2-3 years of age. These patients present with precocious (abnormally early) development of the physical changes associated with puberty. Neurological problems, such as epilepsy, are usually absent. Magnetic resonance (MR) imaging on patients with central precocious puberty typically shows attachment of the HH lesion in an anterior location in the hypothalamus, in the region of the tuber cinereum or pituitary stalk.

For those with epilepsy, gelastic (laughing) seizures, is the presenting symptom, often during infancy. Associated symptoms can include developmental delay, cognitive deterioration, and psychiatric symptoms such as rage behaviors. MR imaging on patients with epilepsy typically shows attachment of the HH in a posterior location in the hypothalamus, in the region of the mammillary bodies. Approximately 40% of HH patients with epilepsy also have precocious puberty. These patients tend to have larger lesions, which are broadly attached both anteriorly and posteriorly in the hypothalamus.
Anti-epilepsy medications usually do not control the gelastic seizures associated with HH, and seizures often worsen with additional seizures types that begin around 4-7 years of age. Cognitive deficits and psychiatric symptoms may also present at this time. For some patients, HH can be a progressively disabling condition. For others, symptoms may be stable and represent little or no disability.

Patients with precocious puberty can usually be treated successfully with medications, specifically with a class of drugs known as gonadotropin-releasing hormone agonists. Medications, specifically anti-epilepsy drugs (AEDs) are less successful for controlling the seizures associated with HH, and therefore surgical intervention may be needed. There has been rapid progress over the past 10 years on developing various surgical approaches for treating HH. The selection of the most appropriate surgical technique is individualized to the clinical symptoms and HH anatomy of each patient.

Resources

American Epilepsy Society
342 North Main Street
West Hartford, CT 06117-2507
Tel: (860)586-7505
Fax: (860)586-7550
Email: khucks@aesnet.org
Internet: http://www.aesnet.org

International League Against Epilepsy
342 North Main Street
West Hartford, CT 06117-2507
Tel: (860)586-7547
Fax: (860)586-7550
Email: info@ilae.org
Internet: http://www.ilae.org/

Hope for Hypothalamic Hamartoma
P. O. Box 721
Waddell, AZ 85355
Email: admin@hopeforhh.org
Internet: http://www.hopeforhh.org/community/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  1/17/2012
Copyright  2012 National Organization for Rare Disorders, Inc.

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