Hypothalamic Hamartoma Center

Hypothalamic hamartomas are rare, benign (non-cancerous) tumor-like formation on the hypothalamus, the area at the base of the brain that controls the production and release of hormones by the pituitary gland. The hypothalamus is a small but crucial part of the brain that controls important functions like hunger, thirst, sleep and emotions.

Hypothalamic hamartomas are associated with a severe form of childhood epilepsy that cause distinctive types of unusual seizures: gelastic seizures (episodes of laughing with no apparent trigger), and dacrystic seizures (episodes of involuntary crying with no apparent trigger).

Due to their unique characteristics, gelastic and dacrystic seizures are sometimes go unrecognized, or undiagnosed, until other symptoms arise. This delay can have serious consequences including severe neurocognitive impairments, intellectual disabilities, early puberty, developmental setbacks and significant behavioral disorders.

Recognizing the complexity of hypothalamic hamartomas and the potential consequences of missed or incorrect diagnoses, we are committed to increasing global awareness among both the public and healthcare professionals. Early and accurate diagnosis is crucial for effective management, given the rarity and intricate nature of this condition.

To ensure optimal care, it is highly recommended that individuals seek treatment at specialized programs with extensive experience in managing hypothalamic hamartomas. These programs are equipped with the expertise and resources needed to provide accurate diagnoses and advanced treatment options, which can significantly improve outcomes and quality of life for patients.

Types of Hypothalamic Hamartomas

Hypothalamic hamartomas a categorized into four different types through the Delalande classification system, which looks at their anatomical location and the extent of their involvement with surrounding brain structures.

Type I (Pedunculated Hamartomas)

Pedunculated Hamartomas are attached to the hypothalamus by a thin stalk or peduncle.

Pedunculated Hamartomas are often small and do not significantly invade the surrounding brain tissue.

Typically, patients with Type I hamartomas may be recognized with signs of gelastic seizures (laughing seizures) but may have fewer or no other neurological symptoms.

Type II (Sessile Hamartomas)

Sessile Hamartomas are broadly attached to the back of the hypothalamus. This is where it connects to your brain’s third ventricle (the space between the lower left and right sides of your brain).

Sessile Hamartomas are more invasive, involving a larger area of the hypothalamus.

In addition to gelastic seizures, patients with Type II hamartomas may experience more complex partial seizures and other neurological symptoms due to the broader involvement of the hypothalamus.

Type III (Intraventricular Hamartomas)

Intraventricular Hamartomas are primarily located within the third ventricle (the space between the lower left and right sides of your brain), extending into the ventricular system.

Intraventricular Hamartomas can cause obstruction of cerebrospinal fluid flow, leading to hydrocephalus (a buildup of fluid in the brain).

In addition to seizures, symptoms of increased intracranial pressure, such as headaches, nausea and vomiting, may be present due to hydrocephalus.

Type IV (Mixed or Extensive Hamartomas)

Mixed or Extensive Hamartomas involve multiple areas, including the hypothalamus, third ventricle (the space between the lower left and right sides of your brain) and surrounding brain structures.

Extensive Hamartomas are extensive and infiltrative, often involving a large portion of the hypothalamus and nearby regions.

Patients with Type IV hamartomas typically may have a wide range of severe neurological symptoms, including complex seizures, cognitive and behavioral impairments and endocrine disturbances.