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- W2060147252 abstract "Marquardt and Loriaux (I974) describe a kinship of two siblings with the combination of diabetes mellitus, diabetes insipidus, and optic atrophy in which there was additional evidence of renal tract dilatation, amino-aciduria, and neurosensory hearing deficit. These authors cite 41 cases of optic atrophy and diabetes mellitus reported since an association of these conditions was first described by Wolfram (I938). Damaske, Cohen, Gutman, and Schumacher (1975) reassess these and three more cases to review a full syndrome of diabetes mellitus, diabetes insipidus, and optic atrophy. A total of 22 cases of the full syndrome are presented in these two publications. Combining the information in these two publications the full syndrome consists of diabetes mellitus, diabetes insipidus, optic atrophy, neurosensory deafness, urinary tract abnormalities (such as hydroureter and neurogenic bladder, probably secondary to diabetes insipidus), and aminoaciduria. Several cases have also had retinal pigmentary disturbance, ataxia, gynaecomastia, intermittent or complete amenorrhoea, hypoandrogenicity, and episodic seizures. The onset of diabetes mellitus in all of these cases was in infancy or youth. Often two or more siblings were affected but no other members of the family were involved, save occasionally for a history of diabetes mellitus in the family. The sexes were equally affected (Damaske and others, I975), and although diabetes mellitus usually preceded both diabetes insipidus and optic atrophy this was not always so. The diabetes insipidus often remained undiagnosed until the children continued to have polyuria despite effective therapy for their diabetes mellitus. The severity of each of the three major findings (diabetes mellitus, diabetes insipidus, and optic atrophy) varied, although diabetes mellitus seems to be a constant finding (Sunder, Danowski, Kenny, Khurana, Sun, Nolan, and Stephan, I972). The other findings in these patients such as neurosensory deafness, urinary tract abnormalities, and" @default.
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- W2060147252 title "Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad) in childhood." @default.
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- W2060147252 doi "https://doi.org/10.1136/bjo.60.4.294" @default.
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