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Two Iraqi sisters and a female cousin developed diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and deafness (D), (the 'DIDMOAD' syndrome) before the age of 12 years. One girl exhibited all the features of this disease complex only 3 months after an unusually late onset of recognizable symptoms at 11 years 9 months. Another girl died suddenly and unexpectedly. This family study illustrates the recessive inheritance pattern of the syndrome.
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PMID:Diabetes insipidus, diabetes mellitus, optic atrophy and deafness. A clinical and genetic study. 48 81

By reporting a further case attention is drawn to the autosomal recessive inherited DIDMOAD-syndrome. While diabetes mellitus and optic atrophy are easy to recognize, one often has specifically to look for deafness, diabetes insipidus and the frequently associated dilatation of the urinary tract. Awareness of this condition is important for genetic counselling and vocational guidance, and allows to avoid invasive neuroradiological investigations.
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PMID:[Diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness--an autosomal recessive syndrome (didmoad-syndrome) (author's transl)]. 65 95

We report on 3 patients with the rare syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, neurosensory deafness, atony of the urinary tract and other abnormalities (DIDMOAD or Wolfram's syndrome). All 3 patients had diabetes mellitus, optic atrophy, deafness and dilatation of the urinary tract. In 2 patients there was diabetes insipidus. The possibility of anatomical outlet obstruction or a neurogenic bladder was eliminated radiologically and urodynamically, and dilatation of the urinary tract was considered to be either a consequence of high diuresis associated with diabetes insipidus or a degenerative process affecting the central and peripheral nervous system, which can explain all of the manifestations of the syndrome except diabetes mellitus. A significant improvement in bilateral urinary tract distention was achieved by bladder drainage in the first 2 cases, while desmopressin therapy dramatically decreased the daily urinary output.
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PMID:Three cases of didmoad or Wolfram's syndrome: urological aspects. 161 61

Two brothers with DIDMOAD (Wolfram) syndrome are described. The elder brother is 12 years old and was diagnosed as having diabetes mellitus at five. He later developed optic atrophy. The younger brother is 10 years old. He also has suffered from diabetes mellitus and optic atrophy. Their audiograms showed moderate hearing loss only at 8000 Hz. Auditory brainstem response (ABR) was normal. No vestibular abnormalities were found. In 151 reported cases, including present cases, 17.4 percent have moderate to severe or at least subjective deafness, 45.0 percent have deafness only at high frequency, 6 percent have deafness for which the severity was not described, 13.4 percent have normal hearing, and in 18.1 percent the status of hearing was not mentioned.
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PMID:Otologic findings of DIDMOAD syndrome. 201 92

Wolfram, or DIDMOAD, syndrome is a genetic disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. We studied a family in which only diabetes mellitus and primary optic atrophy were present in three female siblings. Two of these patients, fraternal twins, were subjected to a complete electrophysiologic examination. The possibility of an incomplete clinical expression of Wolfram syndrome, hypotheses of its genetic transmission, and diagnostic problems are discussed.
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PMID:Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases. 272 80

A 30 year old man with DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease is reported. Echocardiographic study revealed a marked symmetric left ventricular hypertrophy. Histology of the endomyocardial biopsy specimen from the right ventricle showed severe glycogen deposition in the myocytes. This case may indicate that DIDMOAD syndrome is a hereditary systemic disease affecting multiple organs, including the myocardium.
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PMID:DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease. 317 80

The Wolfram, or DIDMOAD, syndrome consists of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Diabetes mellitus usually occurs as the first manifestation of this syndrome, followed by the development of optic atrophy, neurosensory hearing loss, and finally diabetes insipidus. We report on four cases with a review of the literature. The diabetes mellitus occurring in these patients is clinically indistinguishable from classic type I diabetes mellitus. Two of three patients continue to have measurable C-peptide secretion 8 yr after onset of diabetes. Two of three patients with Wolfram syndrome had the HLA-DR2 antigen. Combining our cases with those described in the literature, 7 of 11 patients have the HLA-DR2 antigen. The preponderance of the HLA-DR2 antigen in the Wolfram syndrome is different from classic type I diabetes. This is further evidence of the genetic heterogeneity of diabetes mellitus. Although the Wolfram syndrome is rare, it should be considered in diabetic patients with unexplained optic atrophy and hearing loss or with polyuria and polydipsia in the presence of adequate blood sugar control.
Diabetes Care
PMID:Wolfram syndrome: report of four new cases and a review of literature. 346 31

We describe two sibs with DIDMOAD-Syndrome, a 19-year-old girl with diabetes mellitus (type I), optic atrophy, inner-ear deafness, and atonia of the urinary tract, and her 5-year-old brother with diabetes mellitus (type I) and optic atrophy. Studies of red blood cell insulin receptors revealed a normal number of receptors per cell and normal affinity to insulin. The syndrome represents an autosomal recessively inherited type of diabetes mellitus, which remains often undiagnozed since most of the symptoms except diabetes mellitus and optic atrophy occur with varying expressivity. An atonia of the efferent urinary tract often with fatal complications is present in 46% of all patients with this syndrome reported in the literature and is unfortunately not included in the acronym DIDMOAD.
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PMID:The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-syndrome). Two affected sibs and a short review of the literature (98 cases). 704 12

Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Incomplete characterisation of this autosomal recessive syndrome has relied on case-reports, and there is confusion with mitochondrial genome disorders. We therefore undertook a UK nationwide cross-sectional case-finding study to describe the natural history, complications, prevalence, and inheritance of the syndrome. We identified 45 patients with Wolfram syndrome--a prevalence of one per 770,000. Non-autoimmune, insulin-deficient diabetes mellitus presented at a median age of 6 years, followed by optic atrophy (11 years). Cranial diabetes insipidus occurred in 33 patients (73%) with sensorineural deafness (28, 62%) in the second decade; renal-tract abnormalities (26, 58%) presented in the third decade followed by neurological complications (cerebellar ataxia, myoclonus [28, 62%]) in the fourth decade. Other abnormalities included gastrointestinal dysmotility in 11 (24%), and primary gonadal atrophy in seven of ten males investigated. Median age at death (commonly central respiratory failure with brain-stem atrophy) was 30 years (range 25-49). The natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive, neurodegenerative disorder. Family studies indicate autosomal recessive inheritance with a carrier frequency of one in 354, an absence of a maternal history of diabetes or deafness, and an absence of the mitochondrial tRNA Leu (3243) mutation. Juvenile-onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome, the differential diagnosis of which includes other causes of neurodegeneration.
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PMID:Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. 749 Sep 92

The 6-year follow-up of a patient affected by Wolfram's syndrome, a rare disease characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract and other abnormalities (DIDMOAD or Wolfram's syndrome), is described. Our patient has diabetes insipidus, diabetes mellitus, abnormal audiograms, without subjective evidence of hearing loss, and dilatation of the urinary tract. Diagnosis was suspected at the age of 8 years. Diabetes mellitus was the first manifestation and treatment with insulin was necessary. Desmopressin therapy decreased dramatically the daily urinary output. In view of the significant morbidity and mortality from renal failure associated with recurrent urinary infections, we have drawn special attention to the urological manifestations of the syndrome. During the follow-up, the patients underwent some investigations, such as renal ultrasound and echotomography and cystourethroscopy. Outstanding results of these studies are severe bilateral hydronephrosis with dilatated ureters and loss of renal tissue. The particular finding is the presence of posterior urethral valves with obstructed bladder. The anatomical outlet obstruction are variable and may be disastrous. There may be failure to thrive, sepsis, anemia be disanal failure. In such instances corrective surgery could improve bladder and ureteral functions.
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PMID:[Wolfram syndrome. Peculiar urologic aspects]. 779 16


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