Endocrine Abstracts

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 tumour is located, surgery is often difficult and associated with considerable risks.

History: 10-year old girl presented with early menstrual cycles. The condition started at age of one year when her parents noticed that their child has developed abnormal vaginal bleeding. Her cycles were regular, each cycle lasted for 3 days. Her parents also noticed that she has developed breast, axillary and pubic hair at the age of five, and seven respectively. The parents also gave a history of difficulty in speech especially articulation and abnormal generalized body movements (epilepsy) since childhood for which she is on medications. She also had attacks of an inappropriate laugh.

Diagnosis and Treatment: Her lab tests consisted with central precocious puberty, MRI shows suprasellar mass and she had been put on leuprolide and antiepileptic medicines until surgery planned. Her surgery was done with complete resection, with histopathology showing hamartoma. After surgery, there was complete remission of seizure.

Conclusion: The treatment of hypothalamic hamartoma (HH) associated with generalized epilepsy (GE) has been found to improve seizures and behavioural disturbances with an acceptable morbidity rate by using a variety of surgical approaches. Partial resection of a tumour may be sufficient to reduce seizure frequency and to improve behaviour and quality of life with few side effects.