Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study case report and review of the literature

BACKGROUND Hemangioblastoma (HBL) in the suprasellar region is extremely ra re. CASE DESCRIPTION A suprasellar mass was found in a 33-year-old woman with r etinal HBL and bilateral adrenal pheochromocytomas. The diagnosis of von Hi ppel-Lindau (VHL) disease was confirmed preoperatively not only by these cl inical manifestations but also by germline mutation study. The existence of VHL disease indicated a diagnosis of HBL for the suprasellar mass. The res ults of our mutation study indicated that this patient had type II VHL dise ase, suggesting that careful follow-up is essential for the early detection of renal cell carcinoma, which is often associated with type II VHL diseas e. Here, we summarize the previously reported features of sellar and supras ellar HBLs. CONCLUSIONS HBLs in this region may be one manifestation of VHL disease. Ge netic testing of the VHL gene of our patient could provide useful informati on to determine appropriate medical care and management. (C) 2001 by Elsevi er Science Inc.