Symptoms of Hypothalamic Hamartoma
The symptoms of hypothalamic hamartoma (HH) include seizures, precocious (early) puberty, cognitive impairment, and emotional and behavioral difficulties. Seizures often begin in infancy and present as brief and frequent gelastic (or laughing) seizures, that may superficially resemble normal laughter, although most parents will soon easily tell the difference.
The difficulty in identifying the episodes as seizures usually delays the diagnosis of epilepsy and of the hypothalamic hamartoma. Psychomotor development is usually normal at this time. Later, often at ages between 4 and 10 years old, seizures become more disabling, with the emergence of different seizure types such as complex partial seizures, generalized convulsions, or drop attacks. In this stage, the child may display signs of progressive cognitive impairment, worsening school performance, and behavioral problems including tantrums, rage attacks, and poor social adjustment.
Some children with HH may have endocrine (or hormonal) disturbances. Central precocious puberty (early puberty) is the most common and can sometimes occur by itself, without seizures or other neurological problems.
There is a tremendous amount of variability between patients with HH. While many patients begin to have gelastic seizures as newborns, others may not develop seizures until their teenage years or early adulthood. The one "rule" that seems to be most consistent is that seizures associated with HH are very difficult to control with available antiseizure medications.
Diagnosis of Hypothalamic Hamartoma
The diagnosis of HH is based on the patient's neurological symptoms and on radiographic and neurological tests. Early detection can improve the likelihood of a successful treatment outcome. We believe that this is particularly important for children who have worsening seizures, or who have begun to show some decline in their learning skills or behavior.
Patients with possible hypothalamic hamartomas should have Magnetic Resonance Imaging (MRI), which should be thoroughly scrutinized, because the lesions can be small and sometimes difficult to detect.
Other methods of evaluating patients include:
