A case of von Hippel-Lindau disease with multi-organ involvement: a rare case report

Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome manifested by a spectrum of tumours in the central nervous system (CNS) and other visceral organs. We herein report a case of 35 years aged newly diagnosed diabetic female patient presented with headache, gait instability, loss of vision in both eyes, left sided hearing impairment and subsequently diagnosed to have VHL disease. The pathophysiology involves the inactivation of the VHL tumour suppressor gene. Early recognition and treatment remains the mainstay of management. Even many years after the complete tumour excision, newer neoplasms may develop. Increasing knowledge about the molecular enabled us to investigate the role of anti-angiogenic drugs. Continuous surveillance at regular interval must be conducted in patients with VHL disease.

One case report on VHL disease with multiple cysts of the pancreas as the main symptom / 中华内分泌外科杂志

Von Hippel-Lindau (VHL) disease is a benign or malignant tumor syndrome which involves multiple systems and organs.Recently,a patient was diagnosed and hospitalized with an initial clinical symptom of pancreatic multiple cystic space-occupying.Multidisciplinary examination and consultation confirmed that there were hemangioblastomas in cerebella,spinal cord and retina,but with no clinical symptoms;therefore,it was diagnosed as VHL disease.According to previous case reports,only a few single cases revealed lesions in so many parts of the central nervous system with typical imaging manifestations.We present an overview and aim to improve the diagnosis of VHL disease with the initial clinical symptom of pancreatic lesions.

A novel RET mutation identified in a patient with pheochromocytoma and renal cell carcinoma / 고신대학교의과대학학술지

Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2 and familial medullary thyroid cancer and in about 4–12% of apparent sporadic cases. Here, we report a 54-year-old man presenting with pheochromocytoma and renal cell carcinoma, who was identified as having a novel missense RET mutation.