• Xinghua Ding, Chao Zhang, Jason M Frerich, Anand Germanwala, Chunzhang Yang, Russell R Lonser, Ying Mao, Zhengping Zhuang, and Mingguang Zhang.
• Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China.
• J. Neurosurg. 2014 Aug 1; 121 (2): 384-386.

AbstractVon Hippel-Lindau (VHL) disease is an autosomal dominant multiorgan tumor syndrome caused by a germline mutation in the VHL gene. Characteristic tumors include CNS hemangioblastomas (HBs), endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas, and pancreatic neuroendocrine tumors. Sporadic VHL disease with a de novo germline mutation is rare. The authors describe a case of multiple CNS HBs in a patient with a heterozygous de novo germline mutation at c.239G>T [p.S80I] of VHL. This is the first known case of a sporadic de novo germline mutation of VHL at c.239G>T. Clinicians should continue to consider VHL disease in patients presenting with sporadic CNS HBs, including those without a family history, to confirm or exclude additional VHL-associated visceral lesions.

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