Article short contents


Slovenska pediatrija 2016; 23: 93-100

https://doi.org/



Case report

LARGE HYPOTHALAMIC HAMARTOMA WITH CLINICAL SIGNS OF PRECOCIOUS PUBERTY

T. Lozej
Splošna bolnišnica »Dr. Franca Derganca« Nova Gorica, Nova Gorica

M. Avbelj Stefanija
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana

N. Bratanič
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana

Abstract

Hypothalamic hamartoma is a non-neoplastic, heterotopic, congenital malformation formed by mature neurons and glial cells. It usually originates from the area close to the posterior hypothalamus, tuber cinereum and the mammillary bodies. Its estimated prevalence is low. The classical clinical triad of central precocious puberty, gelastic seizures and mental retardation is often seen. Central precocious puberty is effectively treated with a GnRH analogue. Therefore, hypothalamic hamartoma itself is not an indication for surgical resection unless there are intractable seizures. Wide surgical resection should be avoided because of the risk of neurological sequelae. Today, less invasive treatment options are being established, such as radiofrequency ablation or radiosurgery (? knife). The aim of the following case report concerning a sevenmonth- old girl is to point out a rare, but important central nervous system pathology, which arises in early childhood and causes central precocious puberty.

Key words: hypothalamic hamartoma, brain malformation, central precocious puberty, gelastic epilepsy, intellectual disability.

More ...