Von Hippel-Lindau syndrome with musculoskeletal manifestations. report of a case
نویسندگان
چکیده
منابع مشابه
Opticochiasmatic Hemangioblastomas Without von Hippel-Lindau Syndrome: A Case Report
A 25-year-old male patient presented with a one-month history of progressive right visual loss. Magnetic resonance imaging showed 20x18 mm cystic lesion which has a mural nodule component with contrast and arisen from optic chiasm, optic nerve and optic tract. Right frontotemporal craniotomy was performed and tumor was totally resected. The histological diagnosis was hemangioblastoma. The patie...
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INTRODUCTION Von Hippel Lindau (VHL) disease is a syndrome that is defined by variety of tumours such as cerebellar haemangioblastomas, renal cell carcinomas, phaeochromocytomas, pancreatic adenomas and ear, nose and throat (ENT) adenomas. This disease is often genetic and inherited in an autosomal dominant fashion, and can present in childhood, adolescence or adult life. This study describes t...
متن کامل[von Hippel-Lindau syndrome].
LABORATORY DATA adrenal changes phaeochromocytoma adrenal cortex hormones adrenal insufficiency, adrenal hypoplasia aldosterone, high levels chromosomal assignment chromosome 11q localization chromosome 3p localization gene, structural-functional anomalies CCND1 (PRAD1) cyclin D1, gene chr.11q13 gene analysis-DNA analysis ST11 (PETS1), gene chr.3p25 VHL von Hippel-Lindau syndrome, gene chr.3p26...
متن کاملVon Hippel-Lindau Syndrome.
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of the VHL protein (pVHL) and increased production of VEGF, PDGF, and TGF-α. The course of VHL syndrome is associated with the development of multiple vascular tumours. Most frequently, these include retinal and central nervous sys...
متن کاملUnusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature
We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...
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ژورنال
عنوان ژورنال: Endocrine Abstracts
سال: 2016
ISSN: 1479-6848
DOI: 10.1530/endoabs.41.ep655