An Hypothalamic Hamartoma Presenting as Gelastic Epilepsy: When it Goes Unnoticed

Abstract

A 5-year-old boy presented with episodes of ocular retroversion occurring over the past 4 weeks. Further investigation revealed frequent bilateral epileptiform frontal activity on electroencephalogram and a nodular formation in the hypothalamus on cerebral computed tomography scan. Magnetic resonance imaging characterized the lesion as a hamartoma of the tuber cinereum. After questioning, episodes of unprovoked laughter since the first year of life, consistent with gelastic seizures, were reported. During follow-up, an increase in testicular volume was noted, and a GnRH stimulation test confirmed the diagnosis of central precocious puberty. The boy underwent treatment with antiepileptic drugs and GnRH analogs. Surgical resection of the hamartoma was performed, resulting in cessation of seizures and behavior’s improvement. Hypothalamic hamartomas can present with precocious puberty and gelastic epilepsy. Diagnosis is challenging and often the symptoms go unnoticed for years. Long-term follow-up and multidisciplinary management are essential for optimal patient care and monitoring.