Unusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature
نویسندگان
چکیده مقاله:
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 enhanced magnetic resonance imaging (CEMR). The report highlights the need to carefully evaluate subtle findings on PET/CT that could be missed or misinterpreted as other diagnoses. It also adds to the existing literature of two cases with Von Hippel Lindau syndrome and medullary carcinoma of thyroid.
منابع مشابه
unusual 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 enhanced magnetic resonance imagi...
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 enhanced magnetic resonance imagi...
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Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominantly inherited multicancer syndrome. Disease is predisposed by hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic islet cell and cystic tumors or epididymis tumors under the mutation or deletion at the tumor suppressor gene. Here we report a 42-year-old woman who had been operated for cerebellar hemangioblastoma and r...
متن کاملA Review of Von Hippel-Lindau Syndrome
Von Hippel-Lindau syndrome (VHL) is a familial neoplastic condition seen in approximately 1 in 36,000 live births. It is caused by germline mutations of the tumor suppressor gene VHL, located on the short arm of chromosome 3. While the majority of the affected individuals have a positive family history, up to 20% of cases arise from de novo mutations. VHL syndrome is characterized by the presen...
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...
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عنوان ژورنال
دوره 17 شماره 2
صفحات 50- 54
تاریخ انتشار 2009-12-01
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