Superior mediastinal paraganglioma associated with von Hippel-Lindau syndrome: report of a case

نویسندگان

  • Tsuyoshi Takahashi
  • Hiroshi Nogimura
  • Ken Kuriki
  • Ryo Kobayashi
چکیده

Extra-adrenal pheochromocytomas are termed paragangliomas. Paragangliomas in the mediastinum, especially the superior mediastinum, are extremely rare. It is known that paragangliomas or pheochromocytomas occur in combination with von Hippel-Lindau syndrome. We present the case of a non-functional superior mediastinal paraganglioma in a patient with von Hippel-Lindau syndrome, without a familial history suggestive of the condition. This case highlights that we should be aware of possible sporadic von Hippel-Lindau syndrome in patients with a mediastinal paraganglioma.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

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 enha...

متن کامل

Mediastinal Neuroendocrine Carcinoma of Unknown Origin Presenting with Superior Vena Cava Syndrome (SVCS): A Case Report

Primary neuroendocrine carcinoma (NEC) of the mediastinum is a rare type of carcinoma. According to the literature, only five cases of this condition have been reported so far. In this paper, we present a rare case of mediastinal NEC of unknown primary site. The patient was a 34-year-old man with mediastinal NEC, who presented with chronic dry cough and a right-sided mediastinal mass one year p...

متن کامل

Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG.

Phaeochromocytomas (PC) and paragangliomas are disorders of the sympatho-adrenomedullary system. They are chromaffin-containing neuroendocrine tumors of neural crest origin that contain catecholamine-secreting granules: they arise from either the adrenal medulla (phaeochromocytomas) or from extra-adrenal neural crest derivatives e.g. the sympathetic chain (paragangliomas). The term paragangliom...

متن کامل

Heritable Cancer Syndromes Related to the Hypoxia Pathway

Families of tumor-suppressor genes, such as those involved in homologous recombination or mismatch repair, contain individual genes implicated in hereditary cancer syndromes. Collectively, such groupings establish that inactivating germline changes in genes within pathways related to genomic repair can promote carcinogenesis. The hypoxia pathway, whose activation is associated with aggressive a...

متن کامل

Deletion of the von Hippel–Lindau gene causes sympathoadrenal cell death and impairs chemoreceptor-mediated adaptation to hypoxia

Mutations of the von Hippel-Lindau (VHL) gene are associated with pheochromocytomas and paragangliomas, but the role of VHL in sympathoadrenal homeostasis is unknown. We generated mice lacking Vhl in catecholaminergic cells. They exhibited atrophy of the carotid body (CB), adrenal medulla, and sympathetic ganglia. Vhl-null animals had an increased number of adult CB stem cells, although the sur...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره 12  شماره 

صفحات  -

تاریخ انتشار 2014