- A dictionary of medical eponyms

Minkowski-Chauffard disease

Alternative eponyms

  • Morbus Minkowski-Chauffard
  • Minkowski-Chauffard haemolytic jaundice
  • Chauffard’s syndrome
  • Minkowski-Chauffard-Gänsslen syndrome
  • Debrie’s familial haemolytic disease
  • Gänsslen's syndrome
  • Gänsslen-Erb acholuric jaundice syndrome
  • Gänsslen-Erb syndrome

Related people

Congenital haemolytical anaemia presenting with spherocytosis, splenomegaly and varying degrees of anaemia and ikterus.

Description

Congenital haemolytical anaemia presenting with spherocytosis, splenomegaly and varying degrees of anaemia and ikterus. Caused by abnormal haemolysis of red blood cells. Associated disorders usually include icterus, gallstones of the pigment type, secondary hyperplasia of the bone marrow and extension of the red marrow into the midshaft of the long bones, presence of urobilinogen in the stools, and occasional extramedullary erythropoiesis with tumourlike paravertebral masses. There may be also a wide variety of complications, such as those involving the skeleton, eyes, and teeth. Roentgenographic findings may show striation and thickening of the frontal and parietal bones and occasional oxycephaly.

Occurs at all ages but is usually first noticed in childhood or early adolescence; both sexes equally affected. Persons of northern European origin are affected most frequently, but not exclusively. Autosomal dominant inheritance.

Bibliography

  • O. Minkowski:
    Über eine hereditäre, unter dem Bilde eines chronischen Icterus mit Urobilinurie, Splenomegalie und Nierensiderosis verlaufende Affection.
    Verhandlungen des Kongresses für innere Medizin, 1900, 18: 316-321.
  • M. A. Chauffard:
    Pathogénie de l’ictère congénital de l’adulte. La semaine médicale, Paris, 1907, 27: 25-29. Les ictères hémolytiques.
    La semaine médicale, Paris, 1908, 28: 45 and 49. Pathogénie de l’ictere hémolytique congénital. Annales de médecine interne, Paris, 1914: 1-17.
  • M. Gänsslen:
    Über hämolytischen Ikterus. Nach 25 eigenen Beobachtungen und 10 Milzexstirpationen.
    Deutsches Archiv für klinische Medizin, Leipzig, 1922, 140: 210-226.

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