Cases reported "Wolfram Syndrome"

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1/55. Evidence of widespread axonal pathology in wolfram syndrome.

    wolfram syndrome, characterised by diabetes insipidus, diabetes mellitus, optic atrophy sensorineural deafness and acquired urinary tract abnormalities, is an hereditary neurodegenerative syndrome, the pathogenesis of which is unknown. We report the post-mortem findings on a patient with well-documented wolfram syndrome. The brain showed severe degeneration of the optic nerves, chiasm and tracts as well as severe loss of neurons from the lateral geniculate nuclei, basis pontis, and the hypothalamic paraventricular and supraoptic nuclei. In addition, there was a widespread axonal dystrophy with axonal swellings in the pontocerebellar tracts, the optic radiations, the hippocampal fornices and the deep cerebral white matter. This widespread axonal pathology parallels the pattern of neurodegeneration and in many areas is more striking than neuronal loss. ( info)

2/55. MRI of wolfram syndrome (DIDMOAD).

    wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo. ( info)

3/55. A DIDMOAD syndrome family with juvenile glaucoma and myopia findings.

    We present here two DIDMOAD syndrome cases (diabetes mellitus, diabetes insipidus, optic atrophy, deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar cataract, and dilatation of the urinary tract. diabetes mellitus, diabetes inspidus, optic atrophy, deafness, myopia, and ventricular septal defect were observed in his elder brother. Juvenile onset diabetes mellitus, congenital glaucoma, deafness, and heart disease were the other remarkable findings observed in relatives to this family. Juvenile glaucoma, posterior polar cataract observed in our propositus, and myopia in both our DIDMOAD syndrome cases are the first ophthalmic manifestations described in the DIDMOAD syndrome. ( info)

4/55. kidney transplantation unraveling wolfram syndrome: a case report.

    BACKGROUND: In wolfram syndrome insulin-dependent diabetes is associated with a multisystem neurodegenerative disorder. There are no prior reports of kidney transplantation in patients with wolfram syndrome. methods: kidney transplantation was undertaken in a child with dysplastic kidneys, sensorineural hearing impairment and bilateral optic atrophy-a combination of features insufficient to define wolfram syndrome. RESULTS: After the procedure diabetes mellitus, diabetes insipidus and urinary bladder dysfunction emerged, thereby revealing wolfram syndrome. CONCLUSIONS: We discuss the etiology of our patient's postoperative events, and conclude that kidney transplantation may expose dormant manifestations-or aggravate existing manifestations-of wolfram syndrome. ( info)

5/55. wolfram syndrome in a family with variable expression.

    wolfram syndrome is a rare neurodegenerative disorder with autosomal recessive inheritance. The main characteristic features of this disorder are diabetes mellitus and optic atrophy. However, diabetes insipidus, sensorineural deafness, renal tract and neurologic abnormalities are seen in majority of patients. In this study, we describe a family in which two members had the main features of the syndrome while a third sibling had only sensorineural deafness. dna analysis revealed that the fully affected siblings were homozygote for a pointmutation on chromosome 4p whereas the third sibling with deafness was a heterozygote carrier for the same mutation. The characteristics of disease and phenotypic variations that possibly related to heterozygote carrier state were discussed. ( info)

6/55. Complete Wolfram's syndrome and successful pregnancy.

    A case of successful pregnancy in a patient with complete Wolfram's syndrome is described. The diagnosis of diabetes insipidus (DI) was made during the pregnancy. The patient was the product of a consanguineous marriage. Our case is the fifth report of successful pregnancy; we underlined the importance of DI for its involvement with pregnancy. ( info)

7/55. wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings.

    wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder. The responsible gene, WFS1, was identified in 1998 and over 66 mutations have been reported since then. We report 2 siblings in a Taiwanese family with WS. They had similar clinical courses, including successive development of diabetes mellitus, optic atrophy, diabetes insipidus, hearing impairment, and urological complications from age 5 to 15 years. Rapid progression of systemic and neurological symptoms was noted in the elder brother. mutation analysis of the 2 probands revealed compound heterozygotes of 1 novel and 1 previously reported mutation. Their parents and an asymptomatic sibling were carriers of 1 mutation. ( info)

8/55. wolfram syndrome.

    The wolfram syndrome is a rare dysmorphogenetic disease of autosomic recessive hereditary nature. The pathogenesis of the disease is still not well known. It is characterised by the presence of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Other anomalies, such as renal outflow tracts and multiple neurological disorders may develop later. In our case report the diabetes mellitus appeared at the age of 4; the hearing loss and renal disturbances at the age of 11; the optic atrophy at the age of 16. No signs of ataxia, diabetes insipidus and neurologic anomalies were found. The diagnosis of wolfram syndrome is not always easy in the first stages of the disease. The suspect may come from the presence of a juvenile diabetes mellitus asssociated with optic atrophy. For the diagnosis a valid clue can be given from the results of some clinical tests such as the positivity of the visual evoked potentials and the retinogram reliefs and the exclusion of the autoimmune origin of the diabetes mellitus. Other signs such as the progressive sensorineural hearing loss, the presence of nystagmus and of urodynamic disturbances and renal complications makes the diagnosis of this syndrome easier. ( info)

9/55. First prenatal diagnosis for wolfram syndrome by molecular analysis of the WFS1 gene.

    wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by early onset diabetes mellitus and progressive optic atrophy in the first decade of life. Other clinical features such as diabetes insipidus, deafness, renal tract abnormalities or psychiatric illnesses are often present. The sequence of the wolfram syndrome gene (WFS1) was described in 1998, and mutations in the gene have been reported in many populations. To date, the function of the putative protein remains unknown. Here we report prenatal diagnosis by analysing the WFS1 gene, in a foetus belonging to a family with a child diagnosed for wolfram syndrome. The parents are carriers of the c.2206G > C (G736R) mutation. To our knowledge this is the first description of prenatal diagnosis for wolfram syndrome, based on the molecular analysis of the WFS1 gene. ( info)

10/55. Wolfram (DIDMOAD) syndrome: report of two patients.

    We report a girl with wolfram syndrome who presented with juvenile-onset diabetes mellitus when she was 4 3/12 years old. optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5/12 years of age, respectively. Her younger brother also developed wolfram syndrome when he was 3 2/12 years old. wolfram syndrome is also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). This syndrome is transmitted as an autosomal recessive trait and is a progressive neurodegenerative disorder. It should be considered in a diabetic patient with unexplained optic atrophy, hearing loss, or polyuria and polydipsia in the presence of adequate blood glucose control. visual acuity should be checked annually in patients with juvenile-onset diabetes mellitus. optic atrophy should be considered if visual acuity is impaired. ( info)
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