P32 – 2702: Hypothalamic hamartoma, gelastic epilepsy and precocious puberty

Abstract

Objective Hypothalamic hamartoma (HH) is a congenital malformation that usually originates close to the tuber cinereum and mamillary bodies. HH is diagnosed based on magnetic resonance imaging (MRI) and histological findings; it is often associated with central precocious puberty (CPP), gelastic seizures, abnormal behavior and mental retardation. CPP in HH patients may start at a very young age, in some cases even at birth. Treatment with a gonadotropin-releasing hormone (GnRH) analogue is reportedly effective in patients with gonadotropin-dependent precocious puberty and HH. Methods We have to presented 2 case reports. 1. 6 months old girl diagnosed in our clinic with precocious puberty and gelastic seizures MRI demonstrated an isointense hypothalamic mass of the tuber cinereum. After surgery she was treated with GnRH analogue and antiepileptic drugs (valproic acid and clonazepam), but epileptic attacks remained intractable. 2. 7 year old girl diagnosed in our clinic with precocious puberty, hypothyroidism, diabetes insipidus. MRI showed an isointense hypothalamic mass of the tuber cinereum, and HH was diagnosed. After partial surgery she was treated with GnRH analogue, levothyroxine, desmopressin and thiazides. Results In both patients, the hamartomas were partially removed, by surgical operation gonadotropin-releasing hormone (GnRH) analogue, antiepileptic drug, levothyroxine, desmopressin was prescribed. One case showed improvement of both intelligence quotient (IQ) score and seizures, and the other showed improvements in IQ and abnormal behavior. It was difficult to determine any topology symptom relationships. Conclusion Surgery and GnRH analogue treatment can alleviate seizures, abnormal behavior and mental retardation associated with HH.