Could it be HH?

Getting a correct diagnosis, in a timely manner, can be challenging for individuals with a hypothalamic hamartoma (HH). Understanding the common symptoms and how HH can manifest differently among individuals, will be helpful when talking to your medical provider. Once an accurate diagnosis is achieved, the important discussions about a treatment plan can take place.


1. If You Suspect HH

A hypothalamic hamartoma (HH) is a rare brain malformation near the hypothalamus that is congenital (present at birth). The tumor-like malformation does not grow or spread to other locations. The tumor remains the same size for the patient’s lifetime, only growing in proportion to normal brain growth. Approximately 1 in 200,000 are diagnosed with HH worldwide, across all geographic and ethnic populations. Approximately 95% of cases are not due to a specific genetic condition but rather what is known as sporatic abnormalities. Approximately 5% of cases are associated with Pallister-Hall syndrome.


2. Most Common Symptoms

There are two hallmark symptoms of a hypothalamic hamartoma, gelastic epilepsy and precocious puberty.

Some people develop one, or both symptoms, depending on the size and location of the tumor.  Specifically, epilepsy develops if the tumor is in the back of the hypothalamus, whereas precocious puberty develops if the tumor is in the front and near the pituitary stalk.  If a tumor is large enough, it may encompass both locations.  Both of these symptoms develop as early as infancy. However, children with HH and precocious puberty only are often not identified as having an Intellectual Disability (Intelligence Quotient below 70).


3. Getting a Diagnosis

Hypothalamic Hamartoma syndrome covers quite a wide range of symptoms that may present from birth or develop later in life. Some individuals demonstrate a significant number of complex symptoms that lead to a rapid decline in overall quality of life, while others may be less impacted and not develop debilitating symptoms until later in life. There are still others that manage the symptoms their whole life and never require surgical intervention. HH is a complex condition that still has so many unknowns and no easy answers for too many individuals.

Getting a correct, comprehensive, and expedient diagnosis is critical. HH is an extremely rare condition with a challenging clinical profile. Very often, families are forced to consult more than one doctor before finding one that has heard of hypothalamic hamartoma syndrome. It will be important to come to the appointment with as much data as possible to explain your concerns.

Some information that may prove helpful in guiding your discussions regarding a possible diagnosis of hypothalamic hamartoma syndrome with your provider include:

  • A seizure diary – describe the seizure(s) and how often it occurs. Write down what prompted the seizure if possible. This won’t always be obvious. There are great resources out there to help you like Seizure Tracker.
  • Video the seizure (This is especially helpful for gelastic seizures). Try to capture the start of the seizure if possible. Focus on the eyes and facial movements. Also record any physical movements. Record several for comparison.
  • Request an MRI using the approved HH MRI Protocol
  • Request an appointment with a neurologist if you don’t already have one. Even better, ask for a referral to an epileptologist. They may have a better understanding of how to deal with HH and uncontrolled (intractable) seizures.
  • Bring a copy of our FAQ’s “Questions to Ask if you Suspect HH”

4. Diagnostic Testing

There are many diagnostic tests available today to assist in the process of diagnosing and treating hypothalamic hamartomas. Some tests will be used more often in the initial diagnosis phase and others will be used exclusively in the course of treatment. While some tests will be standard practice at most hospitals (i.e. MRI and EEG), other hospitals may not have access or chose to use the newer technology when treating HH. We have included the spectrum of diagnostic tests, their definition, and in some cases the challenges associated with that test and HH. Our goal is to familiarize you with the terms and help facilitate a conversation with your provider when it comes to testing.


5. Find Provider

It is important to find healthcare providers that have some knowledge of hypothalamic hamartomas, however, this isn’t always possible.


6. Get Support

Nobody chooses to go through such challenging situations, but when life throws us curve balls, many realize that they have a deep reserve of strength that they never thought they could find. It is often most helpful to find others who are experiencing the same type of journey. Hope for HH provides the following opportunities: