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Symptoms and Diagnosis of Hypothalamic Hamartoma

 

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. EEG services are also used.

Neuropsychological Evaluation

An interdisciplinary team integrates diverse information about a patient to help advise the patient and family about how they might best be helped.

Consequently, the neurosurgeon must understand a patient's level of cognitive function before surgical intervention for a hypothalamic hamartoma. Individuals with this diagnosis can have a wide variety of cognitive and behavioral difficulties. Consequently, depending on the patient's needs, different types of tests might need to be administered.

These tests provide an objective assessment of a patient's neuropsychological status before and after surgery.

Tests administered typically include the Barrow Neurological Institute Screen for Higher Cerebral Functioning, the Trail Making Test-Parts A and B, portions of the Wechsler Adult Intelligence Scale or portions of the Wechsler Intelligence Scale for Children (depending on the patient's age), and various tests of memory function.

The patient's family completes questionnaires concerning an individual’s level of competence in day-to-day life, and describes the patient's personality or behavioral characteristics. Adult patient's fill out a similar questionnaire.

Hypothalamic hamartomas can affect cognitive and personality function in different ways, depending on the age of an individual and how long the tumor has influenced normal neurological development.

Intelligence, problem solving ability, and emotional and motivational development are often affected.

By understanding a patient's neuropsychological status, family, teachers, and the patient can better understand adjustment problems and what options are available to improve their management.

Contact Us

For more information, please contact Maggie Bobrowitz, RN at (602) 933-0686 or mbobrowitz@phoenixchildrens.com.

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