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Imerslund-Gräsbeck syndrome
Also known as:
Imerslund's anaemia
Imerslund's syndrome
Imerslund-Najman-Gräsbeck anaemia
Imerslund-Najman-Gräsbeck syndrome
Imerslund-Najman-Gräsbeck disease
Associated persons:
Armas Ralph Gustaf Gräsbeck
Olga Imerslund
Emil Najman
Description:
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.
Bibliography:
- 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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