Feocromocitoma asociado a enfermedad von Hippel–Lindau

  1. Soraya Rebollar González 1
  2. Ángela Ascaso Matamala 2
  3. María Santamaría González 1
  4. Juan José Puente Lanzarote 1
  5. Jesús María Garagorri Otero 2
  6. María Gloria Bueno Lozano 2
  1. 1 Servicio de Bioquímica Clínica, Hospital Clínico Universitario Lozano Blesa, Zaragoza
  2. 2 Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, Zaragoza
Revue:
Revista del laboratorio clínico

ISSN: 1888-4008

Année de publication: 2016

Volumen: 9

Número: 1

Pages: 21-24

Type: Article

DOI: 10.1016/J.LABCLI.2016.01.002 DIALNET GOOGLE SCHOLAR

D'autres publications dans: Revista del laboratorio clínico

Résumé

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.

La source de données: Dialnet