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Imerslund-Gräsbeck syndrome

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A familial syndrome characterized by juvenile pernicious anaemia caused by selective malabsorption of vitamin B12. Both sexes affected; onset most commonly in second year of life. Principal symptoms include fatigue; weakness; pallor, gastrointestinal disorders with diarrhoea and vomiting, glossitis, jaundice, heart murmur and proteinuria. Urinary tract abnormalities are frequent, e.g. double ureters. Inheritance is autosomal recessive.

A typical case of this disease was first described by Emil Najman and B. Brausil in 1952.


  • E. Najman, B. Brausil:
    Megaloblastische Anämie mit Relapsen ohne Achylia gastrica im Kindesalter.
    Annales paediatrici, Basel, 1952, 178 (1): 47-59.
  • O. Imerslund:
    Idiopathic chronic megaloblastic anemia in children needing continuous treatment.
    Oslo, Oslo University Press, 1959.
  • R. G. Gräsbeck:
    Familjär selektiv B12-malabsorption med proteinuri. Ett perniciosaliknande syndrom.
    Nordisk Medicin, Stockholm, 1960, 63: 322-323.
  • R. G. Gräsbeck, R. Gordin, I. Kantero and B. Kuhlbäck:
    Selective vitamin B12 malabsorption and proteinuria in young people: a syndrome.
    Acta Medica Scandinavica, Stockholm, July 15, 1960, 167: 289-296.
  • O. Imerslund:
    Idiopathic chronic megaloblastic anemia in children.
    Acta Pædiatrica, Uppsala, 1960, 49 (Supplement 119): 1-115.
  • H. Broch, O. Imerslund, E. Monn, et al:
    Imerslund-Gräsbeck anemia: a long term follow-up study.
    Acta Pædiatrica Scandinavica, 1984, 73: 248-253.

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