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

Three male siblings with diabetes mellitus are described, two of whom also had coexistent diabetes insipidus. The co-existence of diabetes mellitus and insipidus appears to represent a single genetic abnormality and may or may not be accompanied by primary optic atrophy. Chlorpropamide was effective in controlling the symptoms of diabetes mellitus and diabetes insipidus.
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PMID:Co-existent diabetes mellitus and diabetes insipidus, a familial disease. 120 90

We have recently identified a point mutation in the mitochondrially encoded tRNA(Leu(UUR)) gene which associates with a combination of type II diabetes mellitus and sensorineural hearing loss in a large pedigree. To extend this finding to other syndromes which exhibit a combination of diabetes mellitus and hearing loss we have sequenced all mitochondrial tRNA genes from two patients with the Wolfram syndrome, a rare congenital disease characterized by diabetes mellitus, deafness, diabetes insipidus and optic atrophy. In each patient, a single different mutation was identified. One is an A to G transition mutation at np 12,308 in tRNA(Leu(CUN)) gene in a region which is highly conserved between species during evolution. This mutation has been described by Lauber et al. (1) as associating with chronic progressive external ophthalmoplegia (CPEO). The other is a C to T transition mutation at np 15,904 in tRNA(Thr) gene. Both mutations are also present in the general population (frequency tRNA(Leu(CUN)) mutation 0.16, tRNA(Thr) mutation 0.015). These findings suggest that evolutionarily conserved regions in mitochondrial tRNA genes can exhibit a significant polymorphism in humans, and that the mutation at np 12,308 in the tRNA(Leu(CUN)) gene is unlikely to be associated with CPEO and Wolfram syndrome.
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PMID:Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. 154 64

We describe four cases of the Wolfram syndrome; a rare congenital syndrome characterised in it's complete form by diabetes mellitus, diabetes insipidus, optic atrophy, nerve deafness and dilatation of the urinary tract. All four of the cases described developed grand mal epilepsy in their second and third decades. Two of the cases developed progressive ataxia. There was one death due to status epilepticus. Absence of most of the corpus callosum and of the septum pellucidum was noted at autopsy. This pathological finding has not been reported previously in this syndrome. These cases highlight the neuro-degenerative aspects of the Wolfram syndrome. The literature on neurological aspects of the syndrome is reviewed.
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PMID:The Wolfram syndrome: a primary neurodegenerative disorder with lethal potential. 156 49

Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophic changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
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PMID:Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. 160 50

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

Optic atrophy can often be a result of arterial blood flow insufficiency associated with systemic vascular disease (cardiovascular disease, hypertension, or diabetes mellitus). The lack of adequate blood perfusion pressure can create conditions leading to anoxia and death of the nerve fiber layer with a resultant visual field defect. A case of a 63-year-old white male is presented with optic atrophy resulting from anterior ischemic optic neuropathy 5 years earlier. A review of the literature concerning the more common causes of ocular vascular insufficiency (i.e., anterior ischemic optic neuropathy, internal carotid disease, central retinal artery occlusion, and branch retinal artery occlusion) as well as diagnostic testing and therapeutic management is discussed.
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PMID:Vascular implications of optic atrophy. 163 40

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

Four Sudanese children with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) are reported. They were two boys (aged 15 and 16 years) in one family and a boy and a girl (aged 16 and 6 years, respectively) in another family. Diabetes mellitus was first to appear (at 3-8 years) followed by deafness and visual failure; and the disease ended fatally in one patient (aged 20 years). In the other three, diabetes insipidus was confirmed using water deprivation test for 8 hours. The maximum urine osmolality ranged between 131-523 mOsm/kg, whereas the corresponding plasma osmolality ranged between 315-332 mOsm/kg. Slight further improvement in urine concentration was observed in 2 of the patients following the use of desmopressin (DDAVP, 20 micrograms intranasally). Intravenous pyelography, voiding cystourethrography and ultrasound revealed severe bilateral hydronephrosis, dilated ureters and distended bladder without vesicoureteral reflux in the three patients. With the high rate of consanguinity prevalent in North Africa and the Middle East, we recommend examining children who present with diabetes mellitus in this region for features of DIDMOAD syndrome.
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PMID:Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families. 187 84

A 19-year-old Japanese woman developed diabetes mellitus, diabetes insipidus and optic atrophy. Other abnormal ocular findings included color blindness, elevated dark adaptation threshold and constriction of visual fields. Diabetic retinopathy, which is considered to be rare in this syndrome, also was found in the fundi of this patient. During the nine-year follow-up period, diabetic retinopathy deteriorated despite treatment by photocoagulation and vitrectomy, suggesting the importance of ophthalmological examinations in patients with DIDMOAD syndrome.
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PMID:[A long-term follow-up of a patient with DIDMOAD (Wolfram) syndrome]. 187 8

The association of diabetes mellitus, diabetes insipidus, neurosensory changes and optic atrophy is known as Wolfram's syndrome. Herein we report on a patient with hypogonadism, pyelocaliceal ectasia and anejaculation. Although associated urological disorders have been reported before, this is the first case of anejaculation coexisting in the same patient reported in the literature. The possible etiopathogenesis is discussed.
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PMID:[Uro-andrologic alterations in Wolfram syndrome]. 195 76


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