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

Diabetes mellitus and bilateral optic atrophy are the defining characteristics of the autosomal recessive Wolfram syndrome. Diabetes insipidus, neurogenic bladder, deafness, and other neurological manifestations are frequent. A review was made of the medical records of 68 Wolfram syndrome patients, aged between 8 and 43 years, identified by casefinding throughout the USA. 41 of the patients (60%) had episodes of severe depression, psychosis, or organic brain syndrome, as well as impulsive verbal and physical aggression. These symptoms were very severe in 17 patients (25%), of whom 12 required admission to a psychiatric hospital and 11 attempted suicide. We conclude that the Wolfram syndrome gene predisposes homozygotes to psychiatric illness.
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PMID:Psychiatric findings in Wolfram syndrome homozygotes. 197 60

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

In France, the combination of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) is designated as Wolfram syndrome. An analysis of 14 personal cases and previous reports showed that the syndrome develops gradually and specified the most common order of occurrence of the various components as well as the other abnormalities (e.g., of the urinary tract) which may be found. Wolfram syndrome is an inherited condition (recessive autosomal transmission). The lack of association with HLA antigens seems to have been established (in the few cases where HLA typing was performed). The prognosis of Wolfram syndrome is grim, with the occurrence of each additional component adding to the severity of the disease.
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PMID:[Diabetes mellitus, diabetes insipidus, optic atrophy and deafness]. 206 60

Two patients with diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA), deafness (D) and dilatation of the urinary tract-the so-called DIDMOAD syndrome are presented. In one of the patients, the presenting components were DI and OA. In the second case, DM was the first manifestation to be diagnosed, and in this patient the course of the syndrome was complicated by associated epileptical activity disorders, and later septicemia. The admission of these patients led us to review the literature describing this syndrome.
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PMID:Diabetes mellitus, diabetes insipidus, optic atrophy and deafness (DIDMOAD syndrome). 209 58

The paper is a unique pathological description of a bilateral, symmetric, anterior, temporal ischemic optic neuropathy with the morphological characteristics of cavernous optic atrophy initially described by Schnabel in glaucomatous eyes. The 80-year-old woman had suffered from cardiac insufficiency and diabetes mellitus for many years. She died from sepsis and circulatory collapse due to ischemic colitis, intestinal perforation, and peritonitis. There was widespread arteriosclerosis but no evidence of giant-cell arteritis. Cell loss was demonstrated in both retinas, the chiasm, and in the central lateral geniculate body. These represent a retrograde, descending and ascending optic atrophy, with transsynaptic degeneration in the LGB. A small craniopharyngioma was found by chance in the infundibulum. Neither clinically nor morphologically were there any signs of glaucoma.
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PMID:[Histopathology of the retina, optic fascicle and lateral geniculate body in chronic, bilateral symmetric ischemic Schnabel's cavernous optic atrophy]. 224 78

We report three Libyan children from one family with the syndrome diabetes insipidus, diabetes mellitus, optic atrophy and deafness, (DIDMOAD). Two children presented with diabetic ketoacidosis while one was discovered during screening of the family. All three children are alive, two of them on desmopressin (DDAVP) and insulin therapy and one on DDAVP only.
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PMID:DIDMOAD syndrome in a Libyan family. 242 93

Two children with the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) developed a megaloblastic and sideroblastic anemia, neutropenia, and borderline thrombocytopenia. Plasma thiamine concentration was low in one patient and normal in the other; in both children, thiamine pyrophosphate in erythrocytes and thiamine pyrophosphokinase activity were lower than the lowest values observed in control subjects. A month after institution of treatment with thiamine, the hematologic findings had returned to normal and the insulin requirements had decreased. Withdrawal of thiamine repeatedly induced relapse of the anemia and an increase in insulin requirements. We propose that an inherited abnormality of thiamine metabolism is responsible for the multisystem degenerative disorder known as DIDMOAD syndrome.
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PMID:Thiamine-responsive anemia in DIDMOAD syndrome. 280 20

The authors report a clinical review of 16 childhood cases with early-onset cerebellar ataxia with retained tendon reflexes. The preservation of tendon reflexes distinguishes this disorder from Friedreich's ataxia. The mean age of onset of symptoms was 7.1 years. The main presenting symptom was abnormal gait (100%). Ataxia of gait and limbs and normal or increased tendon reflexes were found in all cases. This disorder is associated with dysarthria, pyramidal signs in the limbs, and in some instances, sensory loss. Other important differences from Friedreich's ataxia are absence of optic atrophy, diabetes mellitus, cardiomyopathy and severe skeletal deformity. Sensory nerve conduction was found to be normal, excluding one case. This finding constitutes another aspect of the syndrome different from Freidreich's ataxia. CT scans were normal in 2 of the 4 cases. The remaining two cases showed cerebellar atrophy. Inheritance is probably autosomal recessive in the majority of cases.
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PMID:Early-onset cerebellar ataxia with retained tendon reflexes. 261 87

The pattern electroretinogram (PERG) has recently been introduced as a clinical procedure. It has been thought by many to represent activity of the retinal ganglion cells, although this is still a matter of contention. The exciting prospect of a selective test of ganglion cell function led to the application of the PERG in a variety of ophthalmological conditions. In the course of these investigations the PERG was found to be diminished in cases of maculopathy, optic atrophy, optic neuritis, toxic optic neuropathy, neurotransmitter disorders, glaucoma and ocular hypertension and in retinal vascular disorders such as diabetes. It was also affected in some cases of amblyopia. This paper briefly describes the techniques used to record the PERG and reviews current literature pertaining to its clinical application.
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PMID:A review of the clinical applications of the pattern electroretinogram. 269 80

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


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