Hippel-Lindau disease

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A syndrome characterised by angiomatosis of the retina, haemangioblastoma of the cerebellum and walls of the fourth ventricle, commonly associated with polycystic lesions of the kidney and pancreas.

Description

A syndrome characterised by angiomatosis of the retina, haemangioblastoma of the cerebellum and walls of the fourth ventricle, commonly associated with polycystic lesions of the kidney and pancreas. Inheritance is autosomal dominant with variable clinical expression. Very long list of ocular features. The syndrome is transmitted as an autosomal dominant trait with varying expression, the symptoms not being apparent until the third decade of life.

Eugen von Hippel in 1895 reported the angiomatosis retinae; Arvid Lindau in 1926 first recognized the related coexistence of cerebellar tumours and cystic tumours in the kidney, epidymis, and pancreas. Czermak had demonstrated that changes in the fundus was capillary angioma of the retina. The term Hippel-Czermak was therefore in use for some time. Von Hippel chose the term angiomatosis because the angiomas were often multiple. Harvey Williams Cushing (1869-1939) in 1928 suggested the term Lindau's disease. In his biography of Harvey Cushing, John Farquhar Fulton (1899-1960) says that "a young Swedish pathologist named Arvid Lindau had attracted Cushing's attention through his description of an important new disease entity - a familiar condition characterized by tumours of the blood vessels in the retina and also in the central nervous system, sometimes accompanied by cystic degenerations of various internal organs". Soon afterwards Cushing operated such a case and in 1928 described it under the title of "Haemangioma of cerebellum and retina (Lindau's disease)."

The term von Hippel-Lindau syndrome has been used as a synonym for Meckel-Gruber syndrome, or splanchnocystic dyscephalia syndrome. This is a different entity entered under Johann Friedrich Meckel, the Younger, German anatomist, 1781-1833.

We thank Andre Trombeta for information submitted.

Bibliography

  • E. von Hippel:
    Vorstellung eines Patienten mit einem sehr ungewöhnlichen Netzhaut beziehungsweise Aderhautleiden.
    Bericht über die 24. Versammlung der Ophthalmologischen Gesellschaft in Heidelberg, 1895, 24: 269.
  • E. von Hippel:
    Uber eine sehr seltene Erkrankung der Netzhaut.
    Albrecht von Graefes Archiv für Ophthalmologie, 1904, 59: 83-86.
  • J. N. Czermak, in:
    Verhandlungen der Ophthalmologischen Gesellschaft in Wien, 1905, page 184.
  • A. Lindau:
    Studien über Kleinhirncysten. Bau, Pathogenese und Beziehungen zur Angiomatosis retinae.
    Doctoral thesis. Acta pathologica et microbiologica Scandinavica, Copenhagen, 1926, 3 (supplement): 1-128.
  • A. Lindau:
    Angiomatosis retinae. Acta pathologica et microbiologica Scandinavica, Copenhagen, 1926, supplement 1: 77.
  • John F. Fulton:
    Harvey Cushing. A biography. Springfield, Illinois, C. C. Thomas, 1946.
We thank Patrick Jucker-Kupper, Switzerland, for information submitted.

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