Hypothalamic Hamartoma : Clinical and MRI Features and Outcome / 대한소아신경학회지

ABSTRACT

PURPOSE: Hypothalamic hamartomas are non-neoplastic malformations which are composed of hyperplastic neuronal tissue of varying size. Clinically, they are characterized by gelastic seizure, precocious puberty, and behavioral and psychiatric disorders. This study was performed to examine the various features of hypothalamic hamartomas such as neurologic manifestations, other clinical manifestations, and EEG and brain MRI findings. Response to AEDs or outcome of operation on hypothalamic hamartoma was evaluated. METHODS: Eleven patients who were admitted to Seoul National University Children's Hospital from July 1986 to January 1997 and diagnosed as hypothalamic hamartoma by brain MRI or CT were enrolled in this study. Clinical manifestations and EEG were reviewed retrospectively through the medical records. The size and type of the hypothalamic hamartoma on brain MRl were analyzed. RESULTS: 1) The range of age at visit was 1yr 9mo to 17yr 2mo (mean 10yr 8mo), and the age at onset was 1yr 1mo to 14yr to 2mo (mean 5yr 8mo). Six patients were male and five were female. 2) The clinical manifestations included gelastic seizure (n=9), behavioral and psychiatric disorders (n=9), other types of seizure (n=8), and precocious puberty (n=6). Other types of seizure were complex partial seizure (n=3), generalized tonic seizure(n=3), and infantile spasm (n=2). 3) The interictal EEG findings included focal spike discharges (n=8), diffuse delta slowings (n=1), hypsarrhythmia (n=1), and normal record (n=1). The focal spike discharges originated from the temporal (n=2), fronto-temporal (n=1), occipital (n=3), or frontal area(n=2). 4) The brain MRI showed that the size of the hypothalamic hamartomas was 2.47+/-1.12cm, and the origin of the tumors was tuber cinereum (n=6) or tuber cinereum and mamillary body (n=5). All lesions were isointense on T1-weighted image relative to normal gray matter, with a sessile attachment to the hypothalamus, and were not enhanced by Gadolinium. 5) Operations were done in 5 cases, those were subtotal removal of the tumor (n=4), and gamma knife radiosurgery (n=1). Seizures were not completely controlled in all but one case on which gamma knife radiosurgery was done. CONCLUSIONS: The hypothalamic hamartomas presented variable clinical pictures including gelastic seizure, precocious puberty, and behavioral and psychiatric disorders. The gelastic and other types of seizure associated with hypothalamic hamartomas were refractory to medication and might be controlled by total removal of the tumor.