Von Hippel-Lindau Disease – a Rare Disease Important to Recognize

Abstract

Introduction: Von Hippel-Lindau disease (VHL) is an autosomal dominant multisystemic cancer syndrome due to a mutation of the VHL tumor suppressor gene on chromosome 3, region p25-26, with an incidence of 1/36,000 in newborns. Patients are at risk of developing cerebellar, spinal and retinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumors, pancreatic and renal cysts, and epididymal cystadenoma. The most common causes of death from VHL are metastases from renal cell carcinoma and neurological complications from cerebellar hemangioblastomas. Molecular analysis of the VHL gene is clinically available and indicated in patients with known or suspected VHL. Case Report: A 19-year-old woman was surgically treated for cerebellar hemangioblastoma in 1998 and for renal cell carcinoma of the right side in 2002. Familial VHL was subsequently diagnosed as the patient’s mother was found to be affected with bilateral polycystic kidney disease with chronic renal failure as well as hemangioblastoma of the retina and medulla oblongata. The mother underwent surgery for bilateral renal cell carcinoma in 2003. Conclusion: The multitude of VHL-associated tumors and intra-familial variability in clinical expressivity render early diagnosis of VHL difficult. We therefore shortly illustrate the spectrum of clinical phenotypes and the VHL screening and surveillance guidelines.

Familiality in brain tumors

“…Study of affected lineages revealed germ-line mutations in the APC gene responsible for familial adenomatous polyposis, and likely for predisposition to brain tumors, including glioma, and possibly a separate variant which has increased incidence of medulloblastoma. 20 Other familial neoplastic syndromes include Turcot's, 21 von HippelLindau disease, 22 Gorlin syndrome, 23 and multiple endocrine neoplasia syndromes. 24 There are numerous well-recognized hereditary syndromes that manifest with brain tumors as part of their phenotype.…”

Epididymal Cysts in Childhood - Conservative or Surgical Approach?

“…ECc and spermatoceles are differentiated from acute or chronic epididymitis, hydroceles, varicoceles, extratesticular scrotal masses (lipomas, lymphangiomas), epididymal tumours (adenomatoid tumour), testicular tumours (9,10). ECs are associated defects in children with cystic fibrosis (11), von Hippel-Lindau disease (12), and polycystic kidney disease (13). An increased incidence of ECs has been reported in boys who are exposed in utero to diethylstilbestrol (14).…”

Clinical features of spinal cord hemangioblastoma complicated by hematomyelia and subarachnoid hemorrhage: Description of a clinical case and review of literature

“…Множественные гемангиобластомы, как пра-вило, поражают структуры задней черепной ямки, сетчатки и спинной мозг. Частота синдрома Гиппеля-Линдау у паци-ентов со спинальными гемангиобластомами составляет 20-40% [6,7].…”