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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

14 cases of posterior ischemic optic neuropathy (PION) were clinically analyzed, in whom we excluded known etiologies of optic nerve disturbances and confirmed the decreased blood supply to the posterior portion of the optic nerve. On the basis of our clinical findings, we have proposed the following criteria for the diagnosis of idiopathic PION: (1) sudden onset of unilateral visual disturbance in older patients; (2) normal optic disc, subsequently developing simple optic atrophy; (3) hypertensive and arteriosclerotic changes in the retinal vessels; (4) varying degrees of impaired vision, variable visual field defects; (5) associated systemic disease such as hypertension, diabetes mellitus, hyperlipemia, hypotension, etc.; (6) exclusion of other demonstrable causes of optic nerve disturbances, and (7) confirmation of abnormal hemodynamics in the posterior portion of the optic nerve by carotid angiography, ophthalmodynamography, ophthalmodynamometry and fluorescein fundus angiography.
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PMID:Posterior ischemic optic neuropathy. III. Clinical diagnosis. 663 61

A now 12 year old boy developed diabetes mellitus when he was 7 years old. From 9 years on he developed progressive optic atrophy and deafness. Type I diabetes mellitus, together with progressive optic atrophy and several other symptoms like deafness, diabetes insipidus and ectasy of urinary tract are known for more than 40 years as autosomal-recessively inherited conditions. Therefore, in case of diabetes mellitus combined with optic atrophy it is necessary to search for further symptoms, developing during the course of the disease. Genetic counselling to the families is mandatory.
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PMID:[Juvenile diabetes mellitus with optic atrophy and labyrinthine deafness. An autosomal-recessive inherited syndrome]. 666 59

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

A family is described in which eleven members, over four generations, suffer from the autosomal dominant inherited maturity onset type diabetes of young people (MODY). A comparison of these findings with those of six families previously described in the literature shows in particular that: 1. manifestation of the disease is predominantly at a fairly young age, 2. the complaint is not insulin-dependent nor is it progressive, 3. when medical supervision is adequate, there are hardly any secondary complications, 4. the inheritance pattern is autosomal dominant with high penetrance and probably a stronger expressivity in the female. This disease can be separated from the classical, insulin-dependent diabetes of the young, from the autosomal dominant lipatrophic diabetes and from the heterozygous form of the autosomal recessive complaint, which in the homozygous state shows diabetes mellitus and insipidus with optic atrophy.
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PMID:[Autosomal dominant mild juvenile diabetes mellitus (MODY) (author's transl)]. 719 23

The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the age of 25 (mean 10.52) years in all the index cases. An analysis of early cases suggested that limb and truncal ataxia and absent tendon reflexes in the legs were the only consistent diagnostic criteria within five years of presentation. Dysarthria, signs of pyramidal tract dysfunction in the legs and loss of joint position and vibration sense are not necessarily present during the first five years of symptoms, but appear to develop eventually in all cases. Scoliosis and ECG evidence of cardiomyopathy were found in over two-thirds of the patients studied; pes cavus, distal amyotrophy, optic atrophy, nystagmus and deafness were all less frequent. The disorder was gradually progressive in all cases. The mean age of losing the ability to walk was 25 years; 95 per cent were chair-bound by the age of 44 years. About 10 per cent of the patients had diabetes mellitus which was controlled by oral hypoglycaemic drugs in one quarter. Diabetes appeared to be associated with a higher incidence of optic atrophy and deafness. Diabetes also clustered within sibships; the risk of an individual with Friedreich's ataxia developing diabetes if an affected sib has it is over 40 per cent. Similarly, cardiomyopathy ran true within affected members of the same sibship, but there were instances of discordance which suggest that the development of the non-neurological features of Friedreich's ataxia may be controlled by modifying genes rather than heterogeneity of the main gene. Segregation analysis and an increased consanguinity rate amongst parents of patients (5.55 per cent) confirmed that this disorder is of autosomal recessive inheritance. A study of 101 first degree relatives of the patients with Friedreich's ataxia failed to demonstrate any neurological or electrocardiographic abnormalities which could be ascribed to the heterozygous state.
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PMID:Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. 727 14

Twenty patients are described with a distinctive clinical syndrome characterised by progressive cerebellar ataxia developing within the first two decades. This is associated with dysarthria, pyramidal signs in the limbs, normal or increased knee jerks and upper limb reflexes and in some instances sensory loss. Inheritance is probably autosomal recessive in the majority, if not all, of the cases. The preservation of tendon reflexes distinguishes this disorder from Friedreich's ataxia. Other important differences from Friedreich's ataxia are absence of optic atrophy, cardiomyopathy, diabetes mellitus and severe skeletal deformity. The prognosis was better in the present series than in cases of Friedreich's ataxia; patients remained ambulant, on average, for more than 10 years longer.
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PMID:Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. 727 63

Acute disc swelling was documented in 21 eyes of 12 patients with long-standing juvenile diabetes. All but one patient were in the second or third decade of life, with a 13-year average duration of diabetes. Seventeen eyes had initial acuity of 20/50 or better, including nine eyes with 20/25 or better; disc swelling was asymptomatic in six eyes. Simultaneous bilateral disc swelling occurred in seven patients. With no specific therapy, vision generally recovered to normal levels within a few weeks, but a few patients retained arcuate, nerve fiber bundle, field defects and optic atrophy. There was no positive correlation with the degree of diabetic retinopathy, and disc swelling did not seem to be a harbinger of progressive retinopathy or proliferation at the nerve head. Disc swelling in juvenile diabetics represents a distinct clinical entity that must be distinguished from other causes of acquired nerve head elevation, especially papilledema of increased intracranial pressure.
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PMID:Acute disc swelling in juvenile diabetes. Clinical profile and natural history of 12 cases. 744 71

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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