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The 6-year follow-up of a patient affected by Wolfram's syndrome, a rare disease characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract and other abnormalities (DIDMOAD or Wolfram's syndrome), is described. Our patient has diabetes insipidus, diabetes mellitus, abnormal audiograms, without subjective evidence of hearing loss, and dilatation of the urinary tract. Diagnosis was suspected at the age of 8 years. Diabetes mellitus was the first manifestation and treatment with insulin was necessary. Desmopressin therapy decreased dramatically the daily urinary output. In view of the significant morbidity and mortality from renal failure associated with recurrent urinary infections, we have drawn special attention to the urological manifestations of the syndrome. During the follow-up, the patients underwent some investigations, such as renal ultrasound and echotomography and cystourethroscopy. Outstanding results of these studies are severe bilateral hydronephrosis with dilatated ureters and loss of renal tissue. The particular finding is the presence of posterior urethral valves with obstructed bladder. The anatomical outlet obstruction are variable and may be disastrous. There may be failure to thrive, sepsis, anemia be disanal failure. In such instances corrective surgery could improve bladder and ureteral functions.
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PMID:[Wolfram syndrome. Peculiar urologic aspects]. 779 16

The association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) is known as Wolfram syndrome. The ophthalmic signs are progressive decrease in visual acuity, constriction of the peripheral visual field with or without central scotoma, colour vision disturbances and bilateral optic disc atrophy. Diabetic retinopathy is a rare complication. We describe the ophthalmological complications in four patients with this syndrome.
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PMID:Four cases of Wolfram syndrome: ophthalmologic findings and complications. 789 60

Wolfram syndrome is an autosomal recessive disorder defined by the occurrence of diabetes mellitus and progressive bilateral optic atrophy. Wolfram syndrome homozygotes develop widespread nervous system abnormalities; in particular, they exhibit severe behavioural difficulties that often lead to suicide attempts or psychiatric hospitalizations. The Wolfram syndrome gene also predisposes heterozygous carriers to psychiatric disorders, and may contribute significantly to the overall burden of psychiatric illness. Based on a linkage analysis of 11 families segregating for this syndrome using microsatellite repeat polymorphisms throughout the human genome, we found the Wolfram syndrome gene to be linked to markers on the short arm of human chromosome 4, with Zmax = 6.46 at theta = 0.02 for marker D4S431.
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PMID:Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. 798 99

The DIDMOAD or so called Wolfram syndrome is a hereditary disease with autosomal-recessive transmission showing 4 main features: diabetes mellitus, diabetes insipidus, nervus opticus atrophia and deafness. Beside this it shows multiple organ involvement. Our 38-year old male patient, showing all above mentioned features except deafness had urinary tract involvement and neurological symptoms. EEG, cerebral MRI, tests with evoked potentials and HLA-typing were performed to discuss the aetiopathogenetic background in our patient. Almost all symptoms of the Wolfram syndrome can be mixed up with complications of diabetes mellitus, which is usually the first symptom of the Wolfram syndrome. Because of this, wrong diagnosis is not rare. Hence in differential diagnosis in any diabetes mellitus type I patient, the possibility of the Wolfram syndrome should be discussed.
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PMID:[DIDMOAD syndrome]. 802 26

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

DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations showed unilateral sensorineural hearing loss and the most common mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, which was inherited from his mother. This suggests the DIDMOAD phenotype is a mitochondrial disorder in some cases and is likely to have a heterogeneous aetiology.
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PMID:Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). 807 60

Mitochondrial DNA mutations cause several human diseases, (eg, Leber's hereditary optic neuropathy). Wolfram syndrome (characterised by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) also has, in some cases, a mitochondrial origin. The disease, often familial, has been well documented as an autosomal recessive disorder, and most of the clinical phenotypes are consistent with an ATP supply defect that is often seen in mitochondrial-mediated disorders. We propose a dual genome defect model for Wolfram syndrome in which nuclear genetic defects or mitochondrial genetic defects can independently lead to the disease. This model suggests that besides a mitochondrial gene defect alone, a nuclear gene defect, which interferes with the normal function of mitochondria (probably with a normal mitochondrial genome), can also be the underlying explanation for the pleiotropic features of Wolfram syndrome. This hypothesis explains how an autosomal recessive disorder can result in mitochondrial dysfunction, and has a general application in the identification of candidate genes for the various important phenotypes (eg, deafness and diabetes mellitus) seen in mitochondrial disorders.
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PMID:Wolfram syndrome: a mitochondrial-mediated disorder? 810 96

We report 2 patients with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and neural deafness), with emphasis on the urological aspects and their management. Both patients underwent thorough radiological endoscopic and urodynamic evaluation, in addition to detailed evaluation of other systems involved. Each had the characteristic hyper-reflexive neurogenic bladder with sphincteric dyssynergia, which resulted in severe urinary tract dilation. One patient was diagnosed at this institution and managed conservatively with clean intermittent catheterisation and anticholinergic medication; the second patient was referred to us after several attempts at surgical correction. The presentation, details of the urological evaluation with special emphasis on the urodynamic findings, and the outcome of different means of management are discussed.
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PMID:Wolfram's (DIDMOAD) syndrome and its urological manifestation. 814 55

The Wolfram syndrome (WS) is an autosomal recessive disorder beginning in childhood that consists of four clinical features: diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Its pathogenesis remains unknown, although the tendency to develop this syndrome has been related to some class II antigens of the HLA system. We report six new cases in four families. A review of published data from the genetic features of this syndrome is performed, establishing the high frequency of the HLA-DR2 antigen in the WS (44.4%) compared with a control group (21.9%; relative risk, 2.8) and to patients with Type 1 insulin-dependent diabetes mellitus (Type 1 diabetes) (6.77%; relative risk, 9.7). We also comment the high frequency of the HLA-DQw1 antigen (85.5%) in this syndrome, without statistical significance. A familial segregation study of the HLA haplotypes has been carried out without finding correlation between the autosomal recessive pattern attributed to the WS, and the major histocompatibility complex. In conclusion, whereas HLA may increase susceptibility to the WS, as shown by the existence of an HLA-DR2 association, the major genetic influence on the inheritance of the WS must be at another locus.
Diabetes Res Clin Pract 1994 Jan
PMID:Analysis of the contribution of the HLA system to the inheritance in the Wolfram syndrome. 820 Feb 99

The Wolfram syndrome (MIM 222300) is a disease of unknown origin consisting of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Here we report on a generalized deficiency of the mitochondrial respiratory enzyme activities in skeletal muscle and lymphocyte homogenate of a girl suffering from the Wolfram syndrome. In addition, we provide evidence for a 7.6-kilobase pair heteroplasmic deletion (spanning nucleotides 6465-14135) of the mitochondrial DNA in the two tissues and show that directly repeated sequences (11 bp) were present in the wild-type mitochondrial genome at the boundaries of the deletion. Neither of the patient's parents was found to bear rearranged molecules. This study supports the view that a respiratory chain defect can present with insulin-dependent diabetes mellitus as the onset symptom. It also suggests that a defect of oxidative phosphorylation should be considered when investigating other cases of Wolfram syndrome, especially because this syndrome fulfills the criteria for a genetic defect of the mitochondrial energy supply: (a) an unexplained association of symptoms (b) with early onset and rapidly progressive course, (c) involving seemingly unrelated organs and tissues.
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PMID:Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). 838 98


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