In medical literature, Hypothalamic Hamartomas are sometimes referred to as benign tumors and other times described as a lesion in or around the hypothalamus. One point that is generally agreed upon is that they are often difficult to diagnose and even more difficult to treat. Some individuals can go years with very few symptoms, or ones that are so mild, they are often missed by both parents and medical professionals. However, for most people with HH, the most common symptoms are frequent daily gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. These symptoms often start early in life – for some, they become apparent shortly after birth, but are frequently misdiagnosed. 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. 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.

There is tremendous variability between individuals and their symptoms. However, many individuals experience some combination of the following:

  • Seizures
  • Cognitive impairments
  • Emotional and Behavioral difficulties
  • Precocious puberty
  • Pallister-Hall syndrome

In this section we will discuss those symptoms and their impact on the individual.

 

While the exact number of Hypothalamic Hamartomas cases worldwide is not known, HH is estimated to occur at the rate of 1 in 200,000 children and teenagers worldwide. This number may be understated due to the fact that the process of diagnosing HH is complex and often not well understood.

Here are lists of of suggested questions you can print out and take with you to your neurologist, neurosurgeon and/or neuroradiologist.

Neurologist Questions

Neurosurgeon Questions

Neurosurgeon - Gamma Knife Surgery Questions

Neurosurgeon - Stereotactic Laser Ablation Questions

Treatment options for hypothalamic hamartomas (HH) have increased dramatically in the last 10 years. When deciding on a treatment, it is important to discuss all options, the associated risks, and compare that to the potential long-term benefits. Make sure all your questions get answered completely, and that you trust the team of doctors who will be with you throughout the course of treatment. If you have to travel to another medical center for surgery or treatment, it is important that you establish a good relationship with the doctors in your local area that will be responsible for any follow-up care or treatments.

Treatment options for hypothalamic hamartomas and the associated seizures currently include:

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, it’s 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 individual show signs of progressive cognitive decline and severe behavior problems.

 

We've compiled a list of hospitals offer services for HH patients. Some hospitals offer comprehensive multi-disciplinary care, while others offer very specialized treatments. Hope for HH does not endorse any hospitals or doctors or represent that this is a complete list of hospitals providing HH treatment and care.

    These animations provide a unique look at hypothalamic hamartomas.

  • The Anatomy of Hamartoma
  • Transcallosal (TC) Surgical Approach to Hypothalamic Hamartomas

Courtesy of Barrow Neurological Institute