A hypothalamic hamartoma (HH) is a rare benign brain tumor or lesion of the hypothalamus. The hypothalamus is located at the base of the brain, and is responsible for many of the “automatic” functions of the brain including hunger, thirst, temperature, passion, and hormone regulation. A hypothalamic hamartoma can cause many types of seizures, precocious (premature) puberty, cognitive deterioration and severe behavioral difficulties known as rage behaviors.
There is tremendous variability in the symptoms experienced by individuals diagnosed with hypothalamic hamartomas (HH). However, many individuals experience some combination of the following:
- Gelastic, dacrystic & other seizures
- Cognitive impairments
- Hypothalamic rages & other emotional and behavioral difficulties
- Precocious puberty
- Pallister-Hall syndrome
More information on symptoms...
Hypothalamic hamartomas are often difficult to diagnose and even more difficult to treat. A misdiagnosis or delay in proper diagnosis may result in unnecessary procedures, a decline in the overall quality of life for the individual, and cognitive decline that cannot be regained. More on the diagnosis of HH...
Treatments are now available for some patients that can eliminate or reduce the tumor in size; eliminate or significantly reduce the frequency of seizures; and halt cognitive declines. For others, treatments are not available or are unsuccessful and the patient must manage the symptoms and side effects for life.
The cause of HH is not known. There are studies that suggest that somatic mutations in the GL13 gene may be responsible. Regardless of the cause, the resulting challenges can be difficult to manage. While an HH may be benign as far as cell growth is concerned, its impact on the individual and those involved with that person’s care is anything but benign.
It is common for the disorder to progress as the individual ages and the seizures worsen, becoming longer and more involved, and more seizure types develop. The seizures are often poorly controlled or completely unresponsive to the standard seizure medications. It is often at this stage, with the increase in numbers and types of seizures, when individuals show signs of progressive cognitive decline and severe behavior problems. These behavior problems may include unprovoked rage attacks, unsuccessful social relationships, and difficulties in the school/work environment. Infants and young children may miss critical developmental milestones in speech, crawling, walking, and cognitive development.
Managing the challenges often requires a team of knowledgeable medical specialists including neurologists/epileptologists, neurosurgeons, neuropsychologists, endocrinologists, and pediatricians. The team of medical specialists will be crucial in managing the obvious symptoms such as seizures - either through medications or surgery, as well as the endocrine issues such as precocious puberty and growth. Additionally, there are less clear-cut issues such as behavior, cognitive challenges that impact school and work, and social interactions. A separate set of specialists may be needed to help manage the practical “Life Skills” issues, as well as living with a chronic condition that can negatively impact self-esteem and self-confidence.
For more information, a dedicated HH community Forum, support, and research, visit www.hopeforhh.org
Hope for Hypothalamic Hamartomas © 2009 – Adapted with permission.
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