A 10-year retrospective study of hemangioblastomas of the central nervous system with reference to von Hippel-Lindau (VHL) disease.

We aimed to analyze the clinical, radiological, surgicopathological and clinical outcome data of patients who underwent surgery for central nervous system (CNS) hemangioblastoma (HBL) with or without von Hippel-Lindau (VHL) disease. The clinico pathological and radiological findings, management and clinical outcome of patients with CNS HBL (operated between 2000 and 2009) were analyzed retrospectively. The differences between sporadic and VHL-associated HBL were analyzed. Forty-nine patients (28 male, 21 female) underwent surgery for CNS hemangioblastoma. Thirty-nine patients (80%) harbored sporadic HBL whereas 10 (20%) had VHL disease. The mean age at diagnosis for VHL-associated HBL was 32 years when compared to 40 years in sporadic HBL. The lesions were solitary in 41 patients and multiple in eight. The cerebellum was the most common site of HBL (35/49, 71%). Six patients with sporadic and two with VHL disease had spinal lesions. On imaging (available in 43/49 patients), a cyst with a mural nodule was the most common finding, seen in 16 patients (37.2%) whereas nine patients (21%) had solid and cystic lesions. Clinical presentation, radiological features, and histomorphology of HBL with or without VHL disease were similar. Multiple cysts in the pancreas, kidney, broad ligament, epididymis, clear cell renal cell carcinoma, phaeochromocytoma and retinal angiomas were the visceral manifestations seen in patients with VHL disease. Of all patients with VHL disease, three required multiple surgeries for new lesions and one died of renal failure and sepsis. Among the patients with sporadic disease (31/39), two died of surgical complications, one died of postoperative sepsis, three were lost to follow-up and the remainder had resolution of symptoms at 1year following surgery. We concluded that the diagnosis of VHL disease is important as management is more difficult and lifelong follow-up and counseling are required in these patients and for their at-risk relatives.