IMPE Abstracts

Introduction: Hypothalamic Hamartomas (HH) are non-neoplastic, congenital and non-progressive malformations appearing during fetal development. They are located between the infundibular stalk and the mammillary bodies at the hypothalamus. They are manifested by gelastic seizures, delayed psychomotor development or central precocious puberty (CPP), which is the most frequent presentation. The mechanism involved in the genesis of CPP is poorly understood, and the ectopic and pulsatile generation of gonadotropin-releasing hormone (GnRH) from HH has been postulated.

Methodology: We present a series of 6 pediatric cases of HH, attended in health centers in Santiago de Chile between 2009 and 2022. Results: 2 were male; age at diagnosis was between 1st day of life and 10 years old; 4 patients presented CPP only, one with gelastic crises only, and the youngest patient presented with gelastic seizures at birth and developed a CPP at 3 months old. All 5 CPP were isosexual, and were managed with GnRH analogs (GnRHa); 3 of them required the use of GnRHa every 28 days, because with quarterly doses they did not improve. Both patients with gelastic seizures were managed with HH surgery since antiepileptic drugs did not achieve good control; one of these patients presented recurrence of CPP at 1,8 years after surgery. Discussion: The HH in our series manifested more frequently with isosexual CPP and in second place with gelastic seizures. The treatment of CPP with GnRHa was safe, but it stands out that 60% required a shorter interval between doses for correct management. The gelastic seizures did not respond to antiepileptics, so they needed surgical management. Patients should be followed throughout childhood for the possibility of recurrence of symptoms.