Von Hippel-Lindau disease

• Published in: The Lancet (British edition) 2004-04, Vol.363 (9416), p.1231-1234
• Main Authors: Richard, Stéphane, Graff, Joyce, Lindau, Jan, Resche, François
• Format: Article
• Language: English
• Subjects: Adult; Arvid Lindau; Biological and medical sciences; Cystic fibrosis; Diagnosis, Differential; Eugen von Hippel; General aspects; Genes; History, 20th Century; Humans; Lesions; Lindau; Male; Medical diagnosis; Medical sciences; Mutation; Neoplasms, Multiple Primary - diagnosis; Pathology; Patients; Tumors; von Hippel; von Hippel-Lindau Disease - diagnosis; von Hippel-Lindau Disease - genetics; von Hippel-Lindau Disease - history
• ISSN: 0140-6736; 1474-547X
• DOI: 10.1016/S0140-6736(04)15957-6

It was [Arvid Lindau] who linked the retinal, cerebral, and visceral components of the disease into a single coherent entity in 1926. In his dissertation, he added 16 of his own patients to 24 previously reported patients with cystic cerebellar tumours.15 He noted that cerebellar tumours were frequently associated with retinal lesions but also with renal cysts, hypernephroma (renal cell carcinoma), and pancreatic and epididymal cysts. Lindau undertook extensive studies of cerebellar and intramedullary spinal cord tumours, and noted the frequency of syringomyelic cavities (figure 4). He called the disorder Angiomatosis des Zentralnervensystems and suggested a misdevelopment during the third month of fetal life. Lindau's monograph created a large stir in medical opinion and Wohlwill introduced the term of Lindau's disease as early as January 1927, during a congress held in Hamburg. In a second paper,16 Lindau showed that the histological resemblance between retinal and CNS lesions was unequivocal. Lindau also noted that 20% of cases were familial, and the autosomal dominant inheritance was pointed out in 1929 by Moller.