PubMed · 4829767
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C R Stasney, R E Fechner. 1974. Pathologic quiz case 1.. https://pubmed.ncbi.nlm.nih.gov/4829767/
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Hypomelanosis of Ito is a neurocutaneous phenotype comprising pigmentary anomalies, neurological defects, structural malformations, and chromosomal abnormalities. It has been described as a distinct multisystem birth defect or, more specifically, as a neurocutaneous syndrome. The main purpose of this study is to provide evidence that this disorder does not exist as a syndrome. Rather, it is a causally nonspecific pigmentary disorder caused by genetic mosaicism.
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The first diagnosed case of glucose-galactose malabsorption (GGM) in Denmark is presented. GGM is an autosomal recessive disorder characterized by neonatal début of severe osmotic diarrhoea. Untreated, GGM is potentially fatal. The disease is chronic and caused by a defect in the Na+/glucose co-transporter, SGLT1, located on the jejunal brush border. Diagnosis is based upon oral glucose tolerance test, stool reducing substances, and may be substantiated by genetic analysis. Treatment consists in eliminating alimentary glucose and galactose. Nurtured on this diet the patient will develop normally.