Unusual CNS Manifestations in a Patient With Von Hippel Lindau Disease

Rojiani, Amyn M.; Elliott, K. A.; Dorovini-Zis, Katerina

doi:10.1097/00005072-199005000-00010

Cited by 2 publications

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“…Although patient 1 possessed bilateral adrenal tumors, only the right adrenal tumor showed marked uptake of radioactivity in MIBG scintigraphy (Fig. 1) (2,(14)(15)(16). In the patients with the P154S mutation of the VHL gene in our study, HAB was not observed and hepatic lesions showed a CT appearance typical of HH.…”

Section: F I G U R E 4 Re S T R I C T I O N E N Z Y Me a N A L Y S mentioning

confidence: 51%

A Novel Mutation in the von HippelLindau Tumor Suppressor Gene Identified in a Japanese Family with Pheochromocytoma and Hepatic Hemangioma

et al. 2006

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Section: F I G U R E 4 Re S T R I C T I O N E N Z Y Me a N A L Y S mentioning

confidence: 51%

A Novel Mutation in the von HippelLindau Tumor Suppressor Gene Identified in a Japanese Family with Pheochromocytoma and Hepatic Hemangioma

et al. 2006

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“…Approximately 20% of patients with intracranial hemangioblastomas have Von Hippel-Lindau disease. 5 Hemangioblastomas have also been reported outside the CNS, for example, in peripheral nerves, 6,7 liver, 8,9 lung, 10 pancreas, 1 retroperitoneum, 10 kidney, 3,[11][12][13] pancreas, 11 urinary bladder, 11 soft tissues of the ankle and popliteal fossa, 13,14 and nasal skin. 15 We present the first documented case of hemangioblastoma located in the left colon.…”

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confidence: 99%

Hemangioblastoma of the Gastrointestinal Tract

et al. 2013

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We present the first documented case of hemangioblastoma located in the left colon. A 75-year-old woman undergoing adjuvant chemotherapy for breast cancer experienced rectal bleeding. Colonoscopy revealed a roundish mass covered with normal mucosa in the sigmoid colon. Endoscopic ultrasound showed an isoechoic lesion originating from the third layer of the intestinal wall; underlying layers were normal. Endoscopic ultrasound features were not suggestive of either cancer or malignant stromal tumor. Left hemicolectomy was subsequently performed due to repeated episodes of lower gastrointestinal bleeding. Grossly, a circumscribed submucosal yellowish nodule (13 mm) was observed, which was not attached to any peripheral nerve. Histologically, the lesion was composed of large, atypical cells traversed by a network of blood vessels. Immunohistochemically, the cells showed positivity for inhibin and NSE and weak positivity for S-100. A diagnosis of hemangioblastoma was made. This case highlights that hemangioblastoma of the gastrointestinal tract can also occur.

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Unusual CNS Manifestations in a Patient With Von Hippel Lindau Disease

Cited by 2 publications

References 0 publications

A Novel Mutation in the von HippelLindau Tumor Suppressor Gene Identified in a Japanese Family with Pheochromocytoma and Hepatic Hemangioma

A Novel Mutation in the von HippelLindau Tumor Suppressor Gene Identified in a Japanese Family with Pheochromocytoma and Hepatic Hemangioma

Hemangioblastoma of the Gastrointestinal Tract

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