Von Hippel-Lindau Disease: Case Report of a Rare Condition

Abstract

Introduction: Von Hippel-Lindau disease (VHL) also known as familial cerebello-retinal angiomatosis is an inherited disease caused by mutation of a gene, characterized by a variety of benign and malignant tumors in different parts of the body [1]. VHL disease is classified as: type 1 which is presented as hemangioblastoma at the level of the central nervous system (CNS), renal cancer and type 2, which is subdivided into A characterized by (retinal angioma, CNS hemangioma, renal cancer), B characterized by (hemangioblastoma, renal cancer, pheochromocytoma) and C characterized by isolated pheochromocytoma [2]. Clinical Case: A 32-year-old female patient of Jehovah's Witness religion with a clear family history of Von Hippel-Lindau disease, who at 28 years of age was admitted to the Neurosurgery Department with a severe headache; therefore, a basic cranial CT was performed with evidence of an infratentorial lesion in the left cerebellar hemisphere causing obstructive hydrocephalus due to compression of the fourth ventricle. It is complemented with brain MRI when there is evidence of an image compatible with hemangioblastoma that exerts mass effect. Through the Nephrology Service, renal ultrasound shows a non-vascularized mass; therefore, simple and contrast CT urogram is requested to rule out malignancy, nephroprotective scheme is placed to prevent CIN, Merhan Score of 2, low risk of 7.5%. In simple and contrast CT urogram, the findings described suggest left renal neoplasm, to be correlated with histopathological study, BOSNIAK type I renal cysts, right ovarian cyst. Conclusions: The treatment of Von Hippel-Lindau disease, due to all its clinical manifestations, is a challenge that should be approached in a multidisciplinary manner. Early detection of tumors means a more effective early management, also alerts family trees with high risk of suffering it.