Hypothalamic hamartoma

Common Name(s)

Hypothalamic hamartoma

Hypothalamic hamartomas (HH) are rare, non-cancerous (benign) tumors that develop in part of the brain called the hypothalamus. Hypothalamic hamartomas occur when the baby’s brain is forming (fetal development) and are present at birth. These tumors typically grow as the child’s brain grows. Hypothalamic hamartomas can cause early puberty (known as central precocious puberty), seizures with developmental delays (known as epilepsy and related neurobehavioral symptoms), or a combination of the two.

Children with central precocious puberty start to present with typical physical puberty features as early as 2 years of age. Children with epilepsy and related neurobehavioral symptoms often present with a specific type of seizure, known as gelastic (laughing) seizures, during infancy. Then, between the ages of 4 and 10 years of age, other types of seizures may develop. In addition, behavioral problems, tantrums, rage attacks and social isolation may occur. 40% of children who have seizures caused by hypothalamic hamartomas also have precocious puberty.

Babies and children who present with seizures or precocious puberty at a young age will likely have brain imaging performed. Hypothalamic hamartomas can be diagnosed with this imaging, which is typically a brain MRI (magnetic resonance imaging). Children who have precocious puberty caused by hypothalamic hamartomas can be treated with medications that correct hormone levels. Seizures caused by hypothalamic hamartomas do not respond well to seizure medications. If symptoms are severe enough, surgical removal of the hypothalamic hamartoma may be necessary. If your child has been diagnosed with a hypothalamic hamartoma, talk with your doctor to discuss the most current treatment options. Support groups can provide additional information and connect you with other families.

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Condition Specific Organizations

Following organizations serve the condition "Hypothalamic hamartoma" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hypothalamic hamartoma" returned 70 free, full-text research articles on human participants. First 3 results:

Medical management and antiepileptic drugs in hypothalamic hamartoma.
 

Author(s): J Helen Cross, Helen Spoudeas

Journal: Epilepsia. 2017 06;58 Suppl 2():16-21.

 

Hypothalamic hamartoma may present with epilepsy, specifically gelastic or dacrystic seizures, or endocrine dysfunction, commonly precocious puberty. The epilepsy in many patients is drug resistant, and has a high association with progressive cognitive, learning and behavioral difficulty. ...

Last Updated: 31 Dec 1969

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Hypothalamic hamartoma: Neuropathology and epileptogenesis.
 

Author(s): John F Kerrigan, Angela Parsons, Candy Tsang, Kristina Simeone, Stephen Coons, Jie Wu

Journal: Epilepsia. 2017 06;58 Suppl 2():22-31.

 

Hypothalamic hamartomas (HHs) are congenital malformations of the ventral hypothalamus resulting in treatment-resistant epilepsy and are intrinsically epileptogenic for the gelastic seizures that are the hallmark symptom of this disorder. This paper reviews the neuropathologic features ...

Last Updated: 31 Dec 1969

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Clinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome.
 

Author(s): Salvatore Striano, Pasquale Striano

Journal: Epilepsia. 2017 06;58 Suppl 2():12-15.

 

Gelastic seizures, usually with onset in early infancy, are the hallmark manifestation of hypothalamic hamartoma. This seizure type is directly generated by hamartoma itself, intrinsically epileptogenic because of its anatomofunctional organization. Other types of seizures, focal ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hypothalamic hamartoma" returned 9 free, full-text review articles on human participants. First 3 results:

Hypothalamic hamartoma: Epileptogenesis beyond the lesion?
 

Author(s): Julia Scholly, Anke Maren Staack, Philippe Kahane, Didier Scavarda, Jean Régis, Edouard Hirsch, Fabrice Bartolomei

Journal: Epilepsia. 2017 06;58 Suppl 2():32-40.

 

The discovery of intrinsic epileptogenicity of the hypothalamic hamartoma (HH) marked a new area in understanding the associated clinical syndrome, often manifesting as progressive epileptic encephalopathy. However, therapeutic procedures targeting the HH proved to be inefficient ...

Last Updated: 31 Dec 1969

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Laser interstitial thermal therapy: A first line treatment for seizures due to hypothalamic hamartoma?
 

Author(s): Victor X Du, Shashank V Gandhi, Harold L Rekate, Ashesh D Mehta

Journal: Epilepsia. 2017 06;58 Suppl 2():77-84.

 

Successful treatment of hypothalamic hamartoma (HH) can result in the resolution of its sequelae including epilepsy and rage attacks. Risks and morbidity of open surgical management of this lesion have motivated the development of laser interstitial thermal therapy (LITT) as a less ...

Last Updated: 31 Dec 1969

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Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity.
 

Author(s): Victor S Harrison, Oliver Oatman, John F Kerrigan

Journal: Epilepsia. 2017 06;58 Suppl 2():50-59.

 

The most common, and usually the only, endocrine disturbance in patients with hypothalamic hamartoma (HH) and epilepsy is central precocious puberty (CPP). The mechanism for CPP associated with HH may relate to ectopic generation and pulsatile release of gonadotropin-releasing hormone ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

International PPB Registry for PPB, DICER1 and Associated Conditions
 

Status: Recruiting

Condition Summary: Pleuropulmonary Blastoma; Sertoli-Leydig Cell Tumor; DICER1 Syndrome; Cystic Nephroma; Wilms Tumor; Pineoblastoma; Renal Sarcoma; Nodular Hyperplasia of Thyroid; Nasal Chondromesenchymal Hamartoma; Ciliary Body Medulloepithelioma; Neuroblastoma; Pituitary Cancer; Embryonal Rhabdomyosarcoma

 

Last Updated: 18 Dec 2017

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