An Unusual Cause of Extremity Weakness: Von Hippel-Lindau Disease and Advantages of Radiologic Imaging on Diagnosis

Abstract

Von Hippel-Lindau disease is a rare autosomal dominant disease with the disorder matched with the short arm of chromosome 3. The prevalence of Von Hippel-Lindau disease has been estimated to be between 1:35000-1:40000. Retinal hemangioma and central nervous system (CNS) hemangioma are the main manifestations with later accompanying adrenal pheochromacytoma, paraganglioma, renal cell carcinoma, islet cell tumors, pancreatic cysts and neuroendocrine tumors, epididymal cysts, or cystadenoma and endolmphatic sac tumor of the inner ear. The disease is a multisystem disorder with phenotypic variability. A 50-year-old man presented with a 2-month history of weakness of the right upper and lower limbs. Magnetic resonance imaging revealed cerebellar and spinal hemangioblastomas. In this case report, we present the radiologic images and clinical features of apatient with von Hippel-Lindau disease along with symptomatic central nervous system hemangioblastomas and multiple renal and pancreatic cysts.