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Neuroradiology Case of the Week

Case 89

Willis Huang and P-L Westesson MD, PhD, DDS

Clinical Presentation: An asymptomatic 24-year-old male with familial history of multiple hemangioblastomas presented for followup.

Radiological Findings:  

Diagnosis: Von Hippel Lindau Disease

Discussion: Von Hippel Lindau Disease is a rare autosomal dominant inherited multisystem disorder which manifests with abnormal blood vessel growth, particularly hemangioblastomas. The prevalence of VHL is estimated to be between 1:35,000 and 1:40,000. Patients with VHL carry germline mutations in the vHL tumor suppressor gene on chromosome 3. Neuroretinal manifestations of VHL include cerebellar and spinal hemangioblastomas, and retinal angiomas. Supratentorial lesions are rare. Visceral manifestations include pheochromocytoma, renal cell carcinoma, pancreatic cysts and islet cell tumors, and cystadenomas. Identification of 2 or more neuroretinal and/or visceral manifestations establishes the diagnosis of VHL. Cerebellar hemangioblastomas and retinal angiomas are the leading manifestations, found in 59% of patients.
     Hemangioblastomas are uncommon vascular tumors in the CNS that occur mainly in the cerebellum and spinal cord. They may occur sporadically, or in patients with VHL disease. MRI with gadolinium contrast is the preferred imaging modality, and the characteristic feature of these tumors is an enhancing nodule associated with a cyst in the cerebellum or an enhancing nodule in the spinal cord. Neuropathologic analysis demonstrates an extensive vascular network of normal-appearing blood vessels in close association with neoplastic stromal cells. Hemangioblastomas associated with VHL occur at a younger age than do solitary hemangioblastomas. Young patients under 50 years old with solitary hemangioblastomas, or patients with multiple hemangioblastomas should be screened for VHL. CNS symptoms from these tumors are caused by compression or bleeding. Recent improvement in screening for CNS lesions in patients with known VHL have led to improved detection of asymptomatic lesions and prevention of catastrophic hemorrhagic sequelae. Treatment of symptomatic or large hemangioblastomas includes surgical excision, conventional radiation therapy, or stereotactic radiosurgery, although conservative monitoring is usually the preferred modality for small noncompressing tumors.
     Patients with VHL require regular brain MRI and abdominal CT screening exams to detect new hemangioblastomas, retinal angiomas, and renal cell carcinomas, all of which are leading causes of morbidity and mortality in these patients. It has been estimated that new lesions develop at a rate of one lesion every 2.1 years, resulting in an average lifespan of 47 years.

References:

1. Wong, E, Joseph J, Tishler, R, Wu J. Hemangioblastoma. UpToDate 2003
2. Choyke, P et al. Von Hippel Lindau Disease: Genetic, Clinical, and Imaging Features. Radiology 146: 629-642, 1995.