Feocromocitoma asociado a enfermedad von Hippel–Lindau
- Soraya Rebollar González 1
- Ángela Ascaso Matamala 2
- María Santamaría González 1
- Juan José Puente Lanzarote 1
- Jesús María Garagorri Otero 2
- María Gloria Bueno Lozano 2
- 1 Servicio de Bioquímica Clínica, Hospital Clínico Universitario Lozano Blesa, Zaragoza
- 2 Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, Zaragoza
ISSN: 1888-4008
Datum der Publikation: 2016
Ausgabe: 9
Nummer: 1
Seiten: 21-24
Art: Artikel
Andere Publikationen in: Revista del laboratorio clínico
Zusammenfassung
Von Hippel–Lindau (VHL) disease (OMIM: 193300) is a familial cancer syndrome, associated with various benign and malignant tumours, mainly retinal and central nervous system haemangioblastomas, renal cell carcinomas and pheochromocytomas. We describe the case of a 8 years old patient with arterial hypertension, blurred vision and family history of pheochromocytoma. A left adrenal mass is observed in doppler ultrasonography and high levels of normetanephrines in orine. Identification of a mutation in the VHL gen (OMIM: 608537) confirms the diagnosis of VHL disease. The diagnosis should be suspected in patients with early onset of pheochromocytoma, even more if there is a family history of this kind of tumors.