PERSONAL DE APOYO
SANSO Elsa Gabriela
congresos y reuniones científicas
Título:
VHL Disease in Infancy and Adolescence: Clinical Presentation and Long-term Follow up
Autor/es:
DRA ANA VIEITES; DRA GABRIELA SANSO; DRA GLORIA LEVIN; DRA MARTA BARONTINI
Lugar:
Costa do Sauípe
Reunión:
Congreso; XXI REUNION DE LA SOCIEDAD LATINOAMERICANA DE ENDOCRINOLOGIA PEDIATRICA; 2010
Institución organizadora:
SLEP
Resumen:
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 confirmed 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 presented CNS or retina hemangiomas, 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.