Hypothalamic Hamartoma - Child Neurology Foundation

Authors: Nathan T. Cohen, MD, FAAP; William D. Gaillard, MD, FAES

Children’s National Hospital, Washington DC

Reviewed: March 2022

SUMMARY

Hypothalamic hamartoma (HH) is a rare growth of cells deep within the brain. The growth occurs in a part of the brain called the hypothalamus, which helps to regulate the body’s endocrine system. Endocrines, also known as hormones, are the body’s chemical messengers.

HH can cause many problems for patients. The problems can include:

Neurologic
Hormonal
Learning
Psychiatric
Behavioral

One important effect of HH is epilepsy, or ongoing seizures. Epilepsy does not occur in all patients. However, the seizures may be difficult to control with medication. Seizures can lead to decreased brain function, also called encephalopathy.

Disorder Overview

DESCRIPTION

HH lesions occur in two main forms:

Intrahypothalamic. This type of HH includes growths within the hypothalamus. It is linked with:

- Epilepsy that is hard to treat and resistant to antiseizure drugs
- Gelastic seizures, which trigger uncontrolled and inappropriate laughter
- Behavioral and psychiatric issues
- Loss of developmental milestones
- Early puberty

Parahypothalamic. This type of HH includes growths around the hypothalamus. It usually causes endocrine problems, such as early puberty. However, it is less likely to cause seizures or cognitive or behavioral problems.

HH affects about 1 in 200,000 children. The exact number of children who develop seizures from HH is not known. However, some researchers estimate that between 50% and 100% of children with HH will develop drug-resistant epilepsy.

SIGNS AND SYMPTOMS

Diagnosis

HH can look different in each child. Further, there is no one specific defining symptom of HH. Therefore, HH can be hard to diagnose.

HH can be diagnosed by magnetic resonance imaging (MRI), which takes pictures of the brain. A brain wave test called an electroencephalogram (EEG) can help look for seizures. Sometimes, however, seizures from HH can be difficult to capture with an EEG.

Common Symptoms

The symptoms of HH may be divided into four categories:

Seizures

HH can cause many kinds of seizures, including:

Gelastic seizures. Spells of inappropriate, often joyless, laughter.
Dacrystic seizures. Spells of inappropriate crying.
Focal seizures with impaired awareness. Spells of an altered level of consciousness.
Atypical absence seizures. Spells of staring that interrupt normal activities.
Tonic seizures. Spells of body stiffening.
Atonic seizures. Spells of losing muscle tone or dropping to the ground.
Generalized tonic-clonic seizures. Spells of uncontrolled jerking of the limbs.
Infantile spasms. Spells of head and body jerks in a baby.

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Cognitive Problems

These can include:

Learning problems
Memory problems

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Psychiatric and Behavioral Problems

These can include:

Rage attacks
Attention-deficit/hyperactivity disorder (ADHD)
Anxiety
Depression

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Endocrine and Hormonal Problems

These can include:

Early-onset puberty, also known as precocious puberty
Weight gain

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CAUSES

Some research has shown that certain genetic problems can lead to HH. However, doctors still do not know the exact way that HH develops. Almost all cases of HH are sporadic. In other words, they are not inherited from family members. Most patients will not learn the specific cause of their case of HH.

In rare cases, HH is caused by a genetic disorder called Pallister-Hall syndrome. These patients have a problem with a the GLI3 gene. The syndrome can lead to issues with the fingers, throat, anus, or kidneys, as well.

LABORATORY INVESTIGATIONS

Several tests can help to diagnose HH and problems related to HH. These tests include:

MRI. MRI takes a detailed picture of the brain. MRI can help a doctor see the HH and where it is located.
EEG. An EEG looks for abnormal electrical activity in the brain. It can help diagnose seizures. It is also called a brain wave test.

Lab tests. Depending on the child’s signs and symptoms, blood and hormone tests may be helpful.
Neuropsychological tests. These tests can help identify learning and memory problems in HH.

TREATMENT AND THERAPIES

There is no cure for HH. However, several kinds of treatments can be helpful.

Medications

HH is often associated with epilepsy, or ongoing seizures. Epilepsy from HH is usually treated with antiseizure medications. Your doctors may also prescribe medications to treat the hormonal issues related to HH.

Removing the Affected Tissue

In most patients, epilepsy is difficult to control with medications. In these cases, seizures can be treated using various surgical or non-surgical approaches. The goal is to remove or disconnect the brain tissue causing the problems. For instance, surgery can remove the HH causing the seizures.

Treating Problems Associated with HH

There are many other problems associated with HH that may require other forms of treatment:

ADHD. ADHD can be managed with a combination of behavioral therapy and medication.
Neurodevelopmental problems. These can be identified and addressed by a pediatrician. The pediatrician may also work with teachers and others on the care team. Some children may benefit from having an individualized education plan (IEP).
Mood disorders. Anxiety and depression can be managed with a combination of therapy and medication.

Care Team

Depending on the child’s symptoms, a pediatrician may need to work with multiple other specialists. A care team for HH may include:

Neurologists. Brain specialists who can help treat seizures.
Psychiatrists and psychologists. Behavioral health doctors who can help manage the behavior and mood problems of HH.
Neurosurgeons. Doctors who can remove HH.
Neuropsychologists. Doctors who can help identify and diagnose learning and memory problems.
Endocrinologists. Doctors who can help treat the hormone problems associated with HH and its treatment.

OUTLOOK

Children cannot outgrow HH. Most patients with intrahypothalamic HH will develop epilepsy. Most of these patients will need to have the HH removed by surgery or by other means. Most will have learning and memory problems, and many will have rage attacks that could interfere with day-to-day life. Many will suffer from anxiety or depression. Finally, many will experience early puberty and other endocrine problems.

It is important to note that most patients can benefit from removal of the growth, and that many patients can achieve freedom from seizures after removal. Early surgery may improve the long-term outlook for some patients.

Resources

Pediatric Epilepsy Surgery Alliance
The Pediatric Epilepsy Surgery Alliance (formerly known as The Brain Recovery Project) enhances the lives of children who need neurosurgery to treat medication-resistant epilepsy. They empower families with research, support services, and impactful programs before, during, and after surgery. PESA’s programs include research-based, reliable information to help parents and caregivers understand when a child’s seizures are drug-resistant; the risks and dangers of seizures; the pros and cons of the various neurosurgeries to treat epilepsy; the medical, cognitive, and behavioral challenges a child may have throughout life; school, financial aid, and life care issues. PESA’s resources include a comprehensive website with downloadable guides, pre-recorded webinars, and virtual workshops; an informative YouTube channel with comprehensive information about epilepsy surgery and its effects; a private Facebook group (Education After Pediatric Epilepsy Surgery) with over 300 members; Power Hour (bi-monthly open forums and live virtual workshops on various topics); and free school training to help your child’s education team understand the impact of their epilepsy surgery in school. Their Peer Support Program will connect you with a parent who has been there. The Pediatric Epilepsy Surgery Alliance also hosts biennial family conferences and regional events that allow families to learn from experts, connect with other families, and form lifelong friendships. They also provide a travel scholarship of up to $1,000 to families in need to fund travel to a level 4 epilepsy center for a surgical evaluation.

In addition, PESA has resources for medical professionals to assist in helping clinicians help the parents of their patients find the resources they need after surgery. Educators and therapists will also find helpful resources and information, including videos, guides, and relevant research. Patients who have undergone surgery are encouraged to register with the Global Pediatric Epilepsy Surgery Registry to help set future research priorities.

Hope for Hypothalamic Hamartomas

The goal of Hope for Hypothalamic Hamartomas (Hope for HH) is to create a single, credible source for information about the diagnosis, treatment, and support of individuals with HH. Hope for HH covers the patient journey from wondering if your child has HH, getting a correct diagnosis, going for treatment, to living with HH. Hope for HH actively supports research and has extensive information on the Researchers and Professionals pages. You can also access educational brochures, get involved, and join the Hope for HH private Facebook community. They provide professionals with the “voice of the community” through the Comorbidity Survey–information shared by over 300 patients and their concerns. More resources, including helpful links and recommended books can be found on the website.

Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF.

Research

ClinicalTrials.gov for Hypothalamic Hamartomas (birth to 17 years).

These are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently.  

ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. This is a resource provided by the U.S. National Library of Medicine (NLM), which is an institute within the National Institutes of Health (NIH). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Please read the NLM disclaimer for details.   

Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits. 

Find Clinical Trials For Hypothalamic Hamartomas

Family Stories

Hope for Hypothalamic Hamartomas has created a Meet the Families section because every story matters. The process of sharing this often-difficult journey can be healing for both you and others in our community. By sharing your story, you can increase understanding and awareness and impact the lives of others living with HH.

The information in the CNF Child Neurology Disorder Directory is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only. CNF is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health related diagnosis or treatment options.

References

Cohen NT, Cross JH, Arzimanoglou A, Berkovic SF, Kerrigan JF, Miller IP, et al. Hypothalamic hamartomas: Evolving understanding and management. Neurology. 2021;97(18):864-73. Epub 2021/10/06. https://doi.org/10.1212/wnl.0000000000012773. PubMed PMID: 34607926; PubMed Central PMCID: PMCPMC8610628.

Kerrigan JF, Parsons A, Tsang C, Simeone K, Coons S, Wu J. Hypothalamic hamartoma: Neuropathology and epileptogenesis. Epilepsia. 2017;58 Suppl 2:22-31. Epub 2017/06/08. https://doi.org/10.1111/epi.13752. PubMed PMID: 28591478.

Helen Cross J, Spoudeas H. Medical management and antiepileptic drugs in hypothalamic hamartoma. Epilepsia. 2017;58 Suppl 2:16-21. Epub 2017/06/08. https://doi.org/10.1111/epi.13758. PubMed PMID: 28591485.

Striano S, Striano P. Clinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome. Epilepsia. 2017;58 Suppl 2:12-5. Epub 2017/06/08. https://doi.org/10.1111/epi.13753. PubMed PMID: 28591476.

Berkovic SF, Arzimanoglou A, Kuzniecky R, Harvey AS, Palmini A, Andermann F. Hypothalamic hamartoma and seizures: A treatable epileptic encephalopathy. Epilepsia. 2003;44(7):969-73. Epub 2003/06/26. https://doi.org/10.1046/j.1528-1157.2003.59102.x. PubMed PMID: 12823582.

Harrison VS, Oatman O, Kerrigan JF. Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity. Epilepsia. 2017;58 Suppl 2:50-9. Epub 2017/06/08. https://doi.org/10.1111/epi.13756. PubMed PMID: 28591479; PubMed Central PMCID: PMCPMC5533614.

Corbet Burcher G, Liang H, Lancaster R, Cross JH, Tisdall M, Varadkar S, et al. Neuropsychiatric profile of paediatric hypothalamic hamartoma: Systematic review and case series. Developmental Medicine and Child Neurology. 2019;61(12):1377-85. Epub 2019/04/13. https://doi.org/10.1111/dmcn.14241. PubMed PMID: 30977116.

Hypothalamic hamartoma [Internet]. National Organization for Rare Disorders (NORD). 2017 [cited 2022 Feb 16]. Available from: https://rarediseases.org/rare-diseases/hypothalamic-hamartoma/

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