Background:
Hamartoma of the hypothalamus represents a well-known but rare cause of central precocious puberty and gelastic epilepsy. Due to the delicate site in which a tumor is located, surgery is often difficult and associated with considerable risks.
Case presentation:
10-Year old girl presented with early and regular menstruation at the age of 1 year each cycle lasted for 3 days. She had developed breast, axillary and pubic hair at the age of five, and seven years respectively, with history of difficulty in speech especially articulation and epilepsy since childhood for which she is on medications. She had attacks of an inappropriate laugh. The laboratory tests were consisted with central precocious puberty, MRI shows suprasellar mass. She received leuprolide and antiepileptic medicines until surgery planned. Surgery was done with complete resection, with histopathology showing hypothalamic hamartoma. After surgery, there was complete remission of seizure. She developed recurrence 4 years later and she is currently on anticonvulsant medications with few attacks of convulsions per week, and she has intellectual disabilities and low school performance.
Conclusion:
The treatment of hypothalamic hamartoma associated with generalized epilepsy has been found to improve seizures and behavioral disturbances with an acceptable morbidity rate by using a variety of surgical approaches. Partial resection of a tumor may be sufficient to reduce seizure frequency and to improve behavior and quality of life with few side effects. Best outcomes are achieved when the patients are managed by an experienced multidisciplinary team and lifelong follow up is recommended.