Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.
The unusual association of Werdnig-Hoffmann disease and nephrogenic diabetes insipidus in a 5-month-old child is described for the first time. The association is casual, considering the different pathways of genetical transmission in these two diseases. The possibility of identifying the heterozygote is discussed and it appears to be limited to nephrogenic diabetes insipidus.
D003919:Diabetes Insipidus / Q000150:complications / Q000235:genetics*; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010243:Paralysis / Q000150:complications / Q000235:genetics*; D010375:Pedigree