Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad) in childhood.

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

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

“…Among all patients analyzed, 66.26% had the full DIDMOAD phenotype when considering only those with four or more symptoms. This number is higher than the one previously reported, 6 and indicates that one-third of patients with WS might not show the four classical clinical features defining the syndrome.…”

“…5 Although these are the two basic symptoms, ~50% patients with WS harbor the full "DIDMOAD" phenotype-the acronym for diabetes insipidus (DI), DM, OA, and deafness (D). 6 Because WS is a progressive disease, patients generally develop a wide spectrum of illnesses during their life, such as psychiatric disorders, renal tract abnormalities, nystagmus, ataxia, and loss of deglutition reflex, as well as many others. 2,4,[7][8][9] Life span is calculated to be 30-40 years, 4 and death usually occurs by respiratory failure due to respiratory center atrophy or asphyxia by food aspiration.…”

The syndrome of diabetes insipidus, diabetes mellitus and optic atrophy (DIDMOA) with diabetic cheiroarthropathy

“…Piley and Thompson (1976) estimate that twenty-four cases have been described. The similarity of symptoms between poorly controlled diabetes mellitus and diabetes insipidus may delay the diagnosis of the latter condition.…”

Wolfram's Syndrome: A Clinical, Diagnostic, and Interpretative Contribution

“…37 As in our observations, other authors found normal caryotype in different patients. 29 ' 42 ' 45 ' 51 ' 56 ' 59 The hereditary sclerodermic lesion of the hands of cases 1 and 2 have a likely genetic background because they were diagnosed in the grandfather, father, and probands, but it might not be related to the syndrome.…”