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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A review of 88 cases from the literature with personal observations on 3 new patients is given of the syndrome featured by juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities. The postmortem in one of our cases is mentioned. The pattern of inheritance is autosomal recessive. The interpretation of the data on diabetes insipidus from the literature and in our three patients is also discussed. It can only be stated that neurohypophyseal diabetes insipidus can be a component of the syndrome and that in many cases--particularly in the presence of lesions of the efferent urinary tract--the possibility of nephrogenous diabetes insipidus can not be excluded with certainty. It seems probable that the same mechanism can be held responsible for the lesions of the olfactory, optic, vestibular and cochlear nerves, the hypophyseal form of diabetes insipidus, retarded sexual maturation, abnormal pupillary reaction, myelopathy and the electro-encephalographic, electroneurological and electromyographic changes in the Wolfram syndrome. The process underlying this affection of neural structures remains obscure.
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PMID:Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients. 27 Feb 76

The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, optic atrophy and sensorineural deafness. The findings of this 13-year follow-up show that this patient developed typical neurological complications of long-standing diabetes mellitus as in the common type 1 variant. Moreover, some peculiar signs occurred such as anosmia, ophthalmoplegia interna, and central nystagmus. Since Wolfram syndrome is probably part of a more generalized neurodegenerative disorder, long-term prognosis will depend both upon the severity of chronic diabetic complications and upon the rapidity, by which degeneration of cerebellar, pontine and brain stem structures appear. Prognosis of the cardinal clinical signs is such that optic atrophy, though usually quite rapid in the beginning, generally does not lead to complete blindness. Sensorineural hearing loss progresses very slowly so that deafness might be expected exceptionally only. The hearing deficit in classical diabetics, however, is of retrocochlear origin. Therefore, in Wolfram syndrome, a combined inner-ear and retrocochlear hearing loss may occur.
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PMID:Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)--neurological findings and prognostic implications. 185 94

The Wolfram, or DIDMOAD, syndrome is a rare congenital disease that is associated with diabetes insipidus, insulin dependent diabetes mellitus of an early onset, bilateral optic atrophy and deafness. Urological disorders are usually present as well. We have studied nine patients belonging to five different families. All of the family members were HLA typed (including DR), and islet cell as well as antinuclear antibody determinations were carried out. Although individuals with insulin dependent diabetes mellitus are very prone to have either HLA-DR3 or -DR4 antigens, none of our patients had DR3 antigens and only one was DR4 positive. On the other hand, three of our patients were typed as HLA-DR2 positive. This antigen is uncommon in classical insulin dependent diabetes. In one of the families, the affected siblings did not share the same HLA haplotype. Islet cell and antinuclear antibodies were not found in any of the cases and six of the patients had a small, but significant, insulin secretory reserve. On the basis of some of the clinical features it was also possible to further distinguish between the DIDMOAD syndrome and the classical insulin dependent diabetes mellitus. The differences encountered between classical and DIDMOAD insulin dependent diabetes mellitus--the presence/absence of HLA linkage, HLA-DR2, -DR3 and -DR4 associations, islet cell or antinuclear antibodies, the tendency to ketosis and diabetic retinopathy--indicate that their etiopathogenies are triggered by distinct mechanisms.
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PMID:Contrasting features of insulin dependent diabetes mellitus associated with neuroectodermal defects and classical insulin dependent diabetes mellitus. 329 50

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.
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PMID:Wolfram syndrome: report of four new cases and a review of literature. 346 31

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 juvenile diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA) and sensorineural deafness (D) is known as DIDMOAD or Wolfram syndrome. Aside from these four cardinal features, a wide variety of abnormalities of the nervous system, urinary tract and endocrine glands have been described in this syndrome. In this report, the clinical features of six patients with DIDMOAD syndrome are presented. All six patients had DM. Five of the six patients had DI, five OA and five displayed abnormal audiogram findings. In addition, two had goiter, two delayed puberty, one seizure and one mental retardation with depression attacks. Urinary tract dilatation was recorded in five patients. Four patients developed typical complications of DM. One of them had overt nephropathy and arthropathy despite the short duration of DM. In addition, this patient had diabetic retinopathy, which is considered to be rare in this syndrome.
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PMID:Various clinical aspects of DIDMOAD (Wolfram) syndrome. 750 61

Four clinical forms of optic neuropathy can occur in diabetes: 1. Axial neuropathy is a classical optic neuropathy. 2. Anterior ischemic optic neuropathy is an acute optic disc ischaemia and the visual loss depends on the number of fibers destroyed. 3. Acute disc swelling occurs in young patients with a type 1 diabetes. It can be asymptomatic, but can also simulate optic disc new-vessels. It seems not to be a ciliary but rather an epipapillary and peripapillary capillaropathy. 4. Optic atrophy can constitute the final out come of forms one and too. In the child, the Wolfram ou DIDMOAD syndrome associates diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
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PMID:[Optic neuropathy in diabetic subjects]. 805 17

Two first cousins both suffering from insulin dependent diabetes mellitus since early childhood developed progressive optic atrophy from the age of 5 and 9 years respectively. They had similar ophthamological features which include optic atrophy with cupping, paracentral scotomata, and total achromatopsia. One patient also had stunted growth, delayed puberty and psychiatric disorder. Neither had diabetes insipidus and deafness. It is suggested that they may be a variant of DIDMOAD (Diabetes Insipidus, Juvenile Diabetes Mellitus, Optic Atrophy, Deafness).
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PMID:Progressive optic atrophy associated with juvenile diabetes mellitus: report of two cases among first cousins. 826 10

Wolfram's syndrome, also known as DIDMOAD syndrome, includes juvenile diabetes mellitus and optic atrophy variously associated with diabetes insipidus and deafness. We describe the neurological findings in 5 patients with Wolfram's syndrome. All patients had a neurological examination and were subjected electrophysiological and brain imaging including CT scan and, in one patient, MRI. There were two pairs of brothers and a sporadic case with paternal consanguinity suggesting recessive inheritance. Neurological abnormalities were found in four patients including dysarthria, seizures, anosmia, nystagmus, ataxia and changes in the electroencephalograms, electroretinograms and evoked potentials. In contrast with previous reports, four patients had abnormal brain CT scan with prominent atrophy of the brainstem. In the patient studied with NMR, severe brainstem and cerebellar atrophy was found. These neuroradiological findings are reminiscent of those described in olivopontocerebellar atrophy and are in agreement with previous pathological studies. We conclude that Wolfram's syndrome includes phenotypical manifestations of olivopontocerebellar atrophy. This reinforces the opinion that olivopontocerebellar atrophy is a nonspecific syndrome of varied causes.
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PMID:[Neurologic manifestations in Wolfram's syndrome]. 833 58

Wolfram syndrome (MIM 222300) is the association of juvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade. Other abnormalities include primary gonadal atrophy. Death occurs prematurely, often from respiratory failure associated with brainstem atrophy. Most patients eventually develop all complications of this progressive, neurodegenerative disorder. The pathogenesis is unknown, but the prevalence is 1 in 770000 in the UK and inheritance is autosomal recessive. A Wolfram gene has recently been mapped to chromosome 4p16.1, but there is evidence for locus heterogeneity, and it is still possible that a minority of patients may harbour a mitochondrial genome deletion. The best available diagnostic criteria are juvenile onset diabetes mellitus and optic atrophy, but there is a wide differential diagnosis which includes other causes of neurodegeneration.
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PMID:Wolfram (DIDMOAD) syndrome. 935 Aug 17


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