Von Hippel-Lindau Disease with Multiple Manifestations

Neurosurgery ◽  
1981 ◽  
Vol 8 (1) ◽  
pp. 92-95 ◽  
Author(s):  
Otakar R. Hubschmann ◽  
T. Vijayanathan ◽  
Roger W. Countee
Keyword(s):  
Genetic Counseling ◽  
Surgical Treatment ◽  
Early Identification ◽  
Renal Carcinoma ◽  
Pancreatic Cysts ◽  
Cerebellar Hemangioblastoma ◽  
Von Hippel Lindau ◽  
Diagnostic Studies ◽  
Von Hippel Lindau Disease ◽  
Retinal Angioma

Abstract The association of a recurrent cerebellar hemangioblastoma, retinal angioma, pheochromocytoma, renal carcinoma, and multiple renal and pancreatic cysts in one patient is reported, and the pertinent diagnostic studies are discussed briefly. Awareness of the possibility of late manifestations of various components of this syndrome in patients treated successfully for cerebellar hemangioblastoma will lead to their early identification and successful surgical treatment. Genetic counseling for patients affected by this syndrome and their families is recommended.

scholarly journals Von Hippel-Lindau disease (VHL-syndrome)

2012 ◽  
Vol 58 (2) ◽  
pp. 34-41
Author(s):  
M Iu Iukina ◽  
A N Tiul'pakov ◽  
E A Troshina ◽  
D G Bel'tsevich
Keyword(s):  
Renal Carcinoma ◽  
Neuroendocrine Tumours ◽  
Broad Ligament ◽  
Pancreatic Cysts ◽  
Malignant Neoplasms ◽  
Men And Women ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Hereditary Tumour Syndrome

Von Hippel-Lindau disease is a hereditary tumour syndrome associated with the earlier development of a variety of benign and malignant neoplasms, such as hemangioblastomas of the central nervous system and retina, tumours of the internal ear, renal carcinoma and cysts, pheochromocytoma, neuroendocrine tumours, pancreatic cysts, epididymal and broad ligament cystadenomas in men and women respectively. Von Hippel-Lindau disease is considered to be the most common cause of hereditary renal cancer.

A Unique Case of Renal Carcinoma with Xp11.2 Translocations/TFE3 Gene Fusions in a 3-Year-old Child, with Coexistent von Hippel-Lindau Gene Mutation

2004 ◽  
Vol 7 (4) ◽  
pp. 403-406 ◽  
Author(s):  
Mana M. Parast ◽  
Grant Eudy ◽  
Kenneth W. Gow ◽  
Mahul Amin ◽  
Bahig Shehata
Keyword(s):  
Gene Mutation ◽  
Renal Carcinoma ◽  
Pediatric Population ◽  
Single Point ◽  
Single Point Mutation ◽  
Transcription Factor Gene ◽  
Unique Case ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Renal cell carcinomas (RCCs) are rare in the pediatric population; when they occur, a significant percentage are associated with specific cytogenetic abnormalities and germline mutations. These include mutations in the von Hippel-Lindau (VHL) gene and translocations involving the TFE3 transcription factor gene on Xp11.2. Here we report a case of a 3-year-old child with a large renal mass. Histologic examination of the tumor showed a predominantly nested growth pattern with some papillary foci. Cytogenetic analysis revealed a karyotype of t(X;1)(p11.2; p34.3), consistent with a TFE3-associated RCC. Interestingly, sequencing of the patient's VHL gene revealed a single point mutation, previously seen in a subgroup of patients with von Hippel-Lindau disease. This is the first reported case, to our knowledge, of t(X;1)-associated RCC in a patient with concurrent VHL gene mutation.

Massive postoperative ascites following pancreatic cysts fenestration in a patient with von Hippel-Lindau disease

2008 ◽  
Vol 32 (11) ◽  
pp. 910-913
Author(s):  
S. Gaujoux ◽  
B. Terris ◽  
J. Bertherat ◽  
V. Vilgrain ◽  
P. Ruszniewski ◽  
...  
Keyword(s):  
Pancreatic Cysts ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Solitary juxtapapillary capillary retinal angioma and von Hippel—Lindau disease

2007 ◽  
Vol 42 (2) ◽  
pp. 251-255
Author(s):  
Klaus-Martin Kreusel ◽  
Nikolaos E. Bechrakis ◽  
Hartmut P.H. Neumann ◽  
Dieter Schmidt ◽  
Michael H. Foerster
Keyword(s):  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Retinal Angioma
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