A robust allegation of von Hippel-Lindau (VHL) associated haemangioblastoma in the central nervous system (CNS): A case report
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چکیده
Haemangioblastoma, a benign vascular tumor derived from the capillary of endothelial cells, is an inherited disorder due to an autosomal dominant trait. The prevalence rates accounted for 1% to 2.5% of all intracranial tumors and 2% to 3% of all intramedullary spinal cord tumors. We report the infrequent case of a robust allegation of von Hippel-Lindau (VHL) associated haemangioblastoma in the central nervous system of a man. A 20 years old male presented to the hospital with the chief complaint of progressive chronic cephalgia three months prior to hospitalization. He complained also of blurred vision on neurologic examination; there is papilla edema with suspicion of retinal edema. Radiological examination result suggested a cerebellar haemangioblastoma dextra with noncommunicating hydrocephalus. After the first operation (installation of VP shunting) and subsequent operation (excision of the tumor), the pathological anatomy results revealed a cavernous angioma.
منابع مشابه
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
OBJECTIVES Haemangioblastoma of the CNS occurs as a sporadic entity and as a manifestation of the autosomal dominant von Hippel-Lindau disease with the major additional components retinal angioma, renal cancer, and pheochromocytoma. Genetic testing for germline mutations predisposing to von Hippel-Lindau disease has been available since identification of the VHL tumour suppressor gene. The impa...
متن کاملPathological and Clinical Features and Management of Central Nervous System Hemangioblastomas in von Hippel-Lindau Disease
Central nervous system (CNS) hemangioblastoma is the most common manifestation of von Hippel-Lindau (VHL) disease. It is found in 70-80% of VHL patients. Hemangioblastoma is a rare form of benign vascular tumor of the CNS, accounting for 2.0% of CNS tumors. It can occur sporadically or as a familial syndrome. CNS hemangioblastomas are typically located in the posterior fossa and the spinal cord...
متن کاملHaemangioblastoma of the posterior cranial fossa: clinico-neuropathological study.
Haemangioblastoma (HBs) may occur sporadically in the central nervous system, or in association with von Hippel-Lindau (VHL) disease. Haemangioblastoma of the central nervous system is often seen in the posterior cranial fossa. VHL is an autosomaly dominant disorder. In sporadic HBs tumours, VHL alleles are reported to be inactive in up to 50% of tumours. Five patients with tumours of the poste...
متن کاملVon Hippel-Lindau disease: delayed presentation as a cerebellar haemangioblastoma in an elderly patient.
Cerebellar haemangioblastomas are rare in the elderly. Those associated with the von Hippel-Lindau (VHL) disease, usually present during the third decade of life. We report an unusually delayed presentation in an 80 year old obligate carrier of VHL gene mutation.
متن کاملReconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system.
OBJECTIVES Cerebellar haemangioblastoma occurs sporadically or as a component tumour of autosomal dominant von Hippel-Lindau disease. Biallelic inactivation of the VHL tumour suppressor gene, which is located on chromosome 3p, has been shown to be involved in the pathogenesis of both tumour entities. Mechanisms of VHL inactivation are intragenic mutations, mitotic recombination events, and hype...
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تاریخ انتشار 2014