Abstracts

RATIONALE: Hamartomas of the hypothalamus(HH) are usually recognised in early life when they present with precocious puberty, severe epilepsy, learning difficulty, behaviour problems and gelastic seizures. Diagnosis may be delayed in the absence of all typical features. The clinical presentation of patients at the milder end of the clinical spectrum is not well reported.
METHODS: We present the clinical features of six patients diagnosed in adult life between 19-55 years. Epilepsy onset was between 0-20 years,(mean of 6.1 years), all with gelastic seizures which developed into other seizure types.In 3 patients,gelastic seizures remitted after some years. No patient had precocious puberty. All patients had a symptomatic seizure syndrome with 1-2 seizure types which were either brief tonic seizures, CPS or atypical absences and gelastic seizures. Secondarily generalised seizures occurred rarely.
RESULTS: One patient was in remission. IQ was normal in 5 patients, of whom two attended university. Only one patient had mild learning difficulty. No patient had behaviour problems. MRI scans of all patients showed sessile hamartomas. In 4 patients, these were small, of about 1cm in size. In 3 patients the hamartoma extended superiorly into the third ventricle. EEGs showed interictal temporal, frontocentral or fast generalised polyspikes. Response to treatment with broad spectrum AEDs was encouraging in 3 patients.
CONCLUSIONS: The diagnosis of HH can be delayed when gelastic seizures are not in the forefront, when the lesion was small,or precocious puberty and learning difficulty are not present.