Review
Lindau's disease: Review of the literature and study of a large kindred

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Abstract

The history of Lindau's disease is reviewed, and current knowledge of the multisystemic involvement and the clinical, laboratory and roentgenologic features are outlined. Ten proved cases and two clinically unequivocal cases, occurring in three generations of a large kindred, are reported. One of these patients was asymptomatic and was detected in a routine screening program by the finding of an epididymal cyst. The success of craniotomy, if performed early, and the desirability of prompt diagnosis have been emphasized. Attention has been called to the need for vigorous screening of all relatives.

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      Citation Excerpt :

      Von Hippel-Lindau (VHL) disease was first described at the end of the 19th century, and remained a clinical diagnosis based on the presence of a cluster of vascular and solid tumors occurring over the lifetime, arising in variable combinations: retinal hemangiomas, central nervous system (CNS) hemangioblastomas (highly vascular tumors, from spinal cord to cerebellum and brainstem), renal cysts, and/or clear cell renal cell carcinoma (RCC), pheochromocytoma/paraganglioma (Pheo/PGL), pancreatic lesions (cysts and pancreatic neuroendocrine neoplasms [PNENs]), endolymphatic highly vascular sac tumors at the posterior portion of the temporal bone, and finally, papillary cystadenomas of the epididymis or broad ligament (1). In 1964, Melmon and Rosen (2) proposed a clinical classification of familial or sporadic VHL based on the association of the various typical tumors. In 1989, Lamiell et al (3) described a 43 members kindred with VHL without Pheo whereas 2 years later Neumann et al (4) described VHL as an autosomal dominant inherited disease in 92 gene carriers from 29 kindreds, all presenting with vascular lesions as core features, but with Pheo present in only 7 kindreds, whereas in the others, renal, pancreatic, or epididymal lesions occurred in variable associations.

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    This study was supported by funds from the Addie and Henry Meyer Memorial Foundation allocated by the Committee on Research of the University of California School of Medicine.

    Present address: National Heart Institute, National Institutes of Health, Bethesda, Maryland.

    1

    From the Department of Medicine, University of California School of Medicine, San Francisco, California.

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