M. Knez Miklič
Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

S. Bertok
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

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

Pheochromocytomas and paragangliomas are rare tumours of the chromaffin cells, which are found in the adrenal medulla or the sympathetic or parasympathetic ganglia. Because of the excessive secretion of catecholamines or a mass effect, they are associated with high morbidity and mortality. More than one third are associated with known mutations in genes that are sought based on the results of biochemical tests, location and histological evaluation of the tumour. Treatment is surgical; lifelong surveillance is mandatory. We present a clinical case of a 12-year-old girl with bilateral pheochromocytoma as part of the von Hippel-Lindau (vHL) syndrome.

Key words: pheochromocytoma, paraganglioma, catecholamines, hypertension, genetics, surgery.