Imerslund-Gräsbeck syndrome

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.

 Imerslund-Gräsbeck syndrome

On the picture - Imerslund-Gräsbeck syndrome with developmental cataract. Low vitamin B12 levels result in high plasma homocysteine levels, which is a potential biomarker of oxidative damage and cataractogenic stressor.

More details:  📖 Clinical Methods in Medicine 2th Edition

The syndrome was first described in Finland and Norway where the prevalence is about 1:200,000. The cause is a defect in the receptor of the vitamin B(12)-intrinsic factor complex of the ileal enterocyte. In most cases, the molecular basis of the selective malabsorption and proteinuria involves a mutation in one of two genes, cubilin (CUBN) on chromosome 10 or amnionless (AMN) on chromosome 14. Both proteins are components of the intestinal receptor for the vitamin B(12)-intrinsic factor complex and the receptor mediating the tubular reabsorption of protein from the primary urine. Management includes life-long vitamin B(12) injections, and with this regimen, the patients stay healthy for decades. However, the proteinuria persists. In diagnosing this disease, it is important to be aware that cobalamin deficiency affects enterocyte function; therefore, all tests suggesting general and cobalamin malabsorption should be repeated after abolishment of the deficiency.

O. Imerslund:
Idiopathic chronic megaloblastic anemia in children needing continuous treatment.
Oslo, Oslo University Press, 1959.

Olga Imerslund (1907 - 1987), Norwegian paediatrician.

O. Imerslund

Olga Imerslund was the daughter of Mikkel Imerslund, a farmer, and Oleane Thorud. She graduated in medicine at the University of Oslo in 1936. During the next five years she worked in hospitals in Halden (19361937), Stavanger (1938) and Trondheim (1938-1941). During World War II she was an assistant physician at Göteborg Barnsjukhus 1941-1942, and 1943-1945 at a hospital run by the Norwegian health authorities in Edinburgh. After the war she worked in the children's department at Ullevål sykehus, Oslo (1947-1948), Rikshospitalet, Oslo (1948-1950, Haukeland sykehus, Bergen (1950-1951), and 1951-1955 again at Rikshospitalet.

She spent time in Copenhagen for further studies in 1949, and 1956-1957 spent one year in the USA with a scholarship. During 1959 to 1961 she was head physician at the Scandinavian teaching Hospital in Korea. She became an approved specialist in children's diseases in 1947, in 1948 also for internal diseases.

References

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6: Bargehr C, Crazzolara R. Cabot rings and other peripheral blood features of
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Intronic Variant in the <i>AMN</i> Gene: A Case Report. Int J Mol Sci. 2019 Jan
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