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 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

In order to investigate the possible role of oxytocin in osmoregulation and its response to stress, plasma immunoreactive oxytocin was measured during hypertonic saline infusion and insulin-induced hypoglycaemia in a group of normal subjects, four patients with idiopathic diabetes insipidus and one patient with DIDMOAD syndrome (the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness). The results were compared with those of plasma immunoreactive vasopressin to the same stimuli. As expected, there was a rise in plasma vasopressin in the normal subjects to both tests: this was absent in the patients with diabetes insipidus. Plasma oxytocin did not rise during hypertonic saline infusion in either group of subjects. The response of oxytocin to insulin-induced hypoglycaemia (0.15 U/kg soluble insulin) in normal subjects was much more variable. One highly symptomatic volunteer showed a marked rise in oxytocin. Two subjects also showed a rise when retested with 0.19 U/kg soluble insulin. There was no response of oxytocin to a standard-dose insulin test in the patients with diabetes insipidus. The data suggest that, in man, oxytocin is not involved in osmoregulation but that it may be secreted in response to marked hypoglycaemia.
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PMID:Responses of neurohypophysial peptides to hypertonic saline and insulin-induced hypoglycaemia in man. 351 6

The clinical and electrophysiologic findings in 11 cases of Wolfram syndrome are presented. These findings suggest that optic atrophy in Wolfram syndrome is not secondary to retinal pathology, but probably represents part of a generalized degeneration of neural structures. The relationship of diabetes mellitus to this process of neural degeneration remains unclear.
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PMID:Optic atrophy in Wolfram syndrome. 356 50

A case of DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and nerve deafness) is described. There was unusually severe urinary tract dilatation which led to an ileal conduit diversion. Immunohistological study of the bladder wall and ureter revealed a marked diminution in nerve fibres, which may have been primary or secondary to the muscle hypertrophy. The possible pathogenesis of the urinary tract dilatation is discussed in relation to this finding.
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PMID:DIDMOAD syndrome with megacystis and megaureter. 380 79

Seven patients with a rare syndrome of diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract, and other abnormalities (Wolfram or DIDMOAD syndrome) are reported. Of the seven patients, three siblings were followed up for 10-17 years. All seven patients had diabetes mellitus and optic atrophy; six had diabetes insipidus; and in the four patients investigated there was dilatation of the urinary tract. The severity of diabetes varied, and all required insulin for control of the hyperglycaemia. In one patient the course of the disease simulated maturity onset diabetes of the young; another presented with ketoacidosis; but none had haplotypes usually associated with insulin dependent diabetes mellitus. The diabetes insipidus responded to chlorpropamide, suggesting partial antidiuretic hormone deficiency. Onset of optic atrophy and loss of vision occurred relatively late and progressed slowly, although in one patient there was a rapid deterioration in visual acuity. Deafness was mild, of late onset, and of sensorineural origin. A degenerative process affecting the central and peripheral nervous system can explain all the manifestations of the syndrome except diabetes mellitus. The pathogenesis of the diabetes mellitus remains obscure.
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PMID:Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome. 405 39

The association of insulin-dependent diabetes mellitus (IDDM) and progressive optic atrophy, occasionally associated with other disorders, is known as Wolfram syndrome. Here is reported the case history of a 14 years old girl who presented IDDM, progressive optic atrophy, hearing loss, disturbed colour vision, hemeralopia and retarded sexual maturation.
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PMID:[Wolfram's syndrome. Presentation of a case]. 633 14

A brother and a sister with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness, etc.) are described. The 15-year-old girl was suffering from severe optic atrophy, severe sensorineural hearing loss but only slight diabetic retinopathy. The 16-year-old boy presented with symptoms which were the opposite: slight optic atrophy, slight sensorineural hearing loss but severe diabetic retinopathy. These complementary impairments of neuronal and (diabetic) retinal function suggest that optic atrophy and retinopathy develop independently in DIDMOAD syndrome.
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PMID:[Independence of retinopathy and optic atrophy in the DIDMOAD syndrome]. 648 90

Two siblings with diabetes mellitus and optic atrophy (Wolfram syndrome) are described. As often noted, they also had atonic urinary bladders. Only one of the siblings had some impairment of hearing. Other findings not previously reported that appeared in each subject were esophageal dysphagia and vertigo. An autopsy in one revealed brain stem hypoplasia and thinning and flattening of the optic nerves with atrophy of the lateral geniculate bodies.
Diabetes Care
PMID:Diabetes mellitus and optic atrophy in two siblings: a report on a new association and a review of the literature. 683 24

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


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