VHL disease in infancy and adolescente: clinical presentation and long-term follow-up.

VIEITES A,; SANSO G; LEVIN G; BARONTINI M

Costa do Sauipe

Congreso; XXI Annual Meeting Latin-American Society for Paediatric Endocrinology (SLEP 2010),; 2010

Latin-American Society for Paediatric Endocrinology

Von Hippel Lindau disease (VHL) is an inherited syndrome caused by mutations of the VHL gene. It predisposes to the development of hemangioblastomas, renal or pancreatic cysts or tumors, endolymphatic sac tumors or pheochromocytomas. We aimed to evaluate the presentation and outcome of VHL in patients under 20 years of age. We studied 23 patients (16 males) belonging to 15 families with VHL disease confirmes by molecular biology. Mean age at presentation: 12 years ( range 4-20). The initial manifestation of VHL was pheochromocytoma in 20/23 patients (11/20 bilateral). The remaining patients presented endolymphatic sac tumor  (1) and CNS angioma (2). Median disease-free interval 8 years (2-42) 11/22 had no recurrence (follow up 6-42 years, median 14). One patient died after six years (cerebral hemorrhage). 11/22 later developed other tumors (between 2 to 31 years, median 16). 4/11 pheochromocytoma, 3/11 hemangioblastoma, kidney or pancreas tumors or cysts simultaneously. Members of the same family presented diferent tumors. We emphasize the need for the search for VHL disease in children mainly with pheochromocytoma, as well as whole life surveillance, since comorbid pathology can show up after a long disease-free period.