Cases reported "Werner Syndrome"

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1/9. Werner's syndrome (adult progeria): an affected mother and son presenting with resistant psychosis.

    Age-related psychotic conditions may be studied by focusing on the unique group of progeroid syndromes. This report will focus on Werner's syndrome, one of the better defined and studied progeroid syndromes. We applied clinical and histophysiological evaluations to two patients, a mother and son, suffering from Werner's syndrome. Both patients presented with resistant psychosis and evidence of impaired cellular repair mechanisms. Psychiatric morbidity in Werner's syndrome is rarely reported. This syndrome can serve as a possible model for aging-associated development of psychosis.
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2/9. A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.

    CONTEXT: Mutations in the lamin A/C (LMNA) gene have been reported in a wide variety of disorders, including lipodystrophies, cardiomyopathy, muscular dystrophies, neuropathy, mandibuloacral dysplasia, restrictive dermopathy, and progeria. OBJECTIVE: The objective of this study was to carry out mutational analysis of LMNA in a patient with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. DESIGN: The study design was a descriptive case report. SETTING: The study was performed at a referral center. PATIENT: A 44-yr-old male of European descent with an autosomal recessive arthropathy syndrome affecting predominantly the distal femora and proximal tibia in the knee with tendinous calcifications was studied. He also had progeroid features, such as pinched nose and micrognathia, cataract, alopecia, generalized lipodystrophy, and sclerodermatous skin. MAIN OUTCOME MEASURES: The main outcome measures were mutational analysis of lamin A/C (LMNA) and its processing enzyme, zinc metalloproteinase (ZMPSTE24), as candidate genes. RESULTS: We found a homozygous nucleotide substitution, 1718C>T, in exon 11 of the LMNA gene, resulting in substitution of a well-conserved residue serine at position 573 with leucine (S573L). This missense mutation only affects lamin A, not lamin C, because the alternative splicing site is located in exon 10. Immunofluorescence staining of the nuclei from his skin fibroblasts showed occasional misshapen morphology. CONCLUSIONS: The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations. Thus, arthropathy with tendinous calcifications can be added to the growing list of disorders associated with LMNA mutations.
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3/9. Atypical meningioma in werner syndrome: a case report.

    INTRODUCTION: werner syndrome, or adult progeria, is a rare autosomal recessive disorder caused by a mutation in the werner syndrome Gene belonging to the family of RecQ helicase. Malignant mesenchymal tumours and atherosclerosis are typical causes of death. Intracranial meningiomas are frequently described in these patients. CLINICAL PRESENTATION: We present the case of a 46-year-old man with werner syndrome and a convexity meningioma. The patient had a 2-year history of paresthesia and paresis in his right leg, which had worsened in recent months. He underwent surgery with Simpson grade II removal, with improvement of the slight paresis and no other neurological defects. The patient then underwent radiotherapy (60 Gy).Histological examination revealed an atypical meningioma. cytogenetic analysis showed a hypodiploid clone with a complex karyotype characterized by monosomy 22 and deletion 1p. After 3 years' follow-up no relapses had occurred. CONCLUSION: 1p deletion correlates with meningioma progression and in this case correlates with histological examination. The chromosomal instability underlying werner syndrome could have fostered the complex karyotype.
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4/9. Bilateral spontaneous dislocated lenses, retinal vasculitis and progeria-like changes.

    Findings are reported for a 70-year-old man with a progeria-like syndrome consisting of premature aging (per history), diffuse wasting, skin atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked nose and high-pitched voice, The ocular findings include: spontaneous bilateral dislocation of spherophakic mature cataracts into the vitreous together with bilateral retinal vasculitis, characterized by venous congestion, tortuosity and occlusion, To the best of our knowledge, there is no case report with all the above features in one person, Hence, the differential diagnosis will also be discussed.
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5/9. A case of a delusional psychotic syndrome in the setting of Werner's syndrome (adult progeria).

    The literature on Werner's syndrome is scarce, and to our knowledge, no documented evidence is available to substantiate central nervous system involvement in this multisystem disease. We present a case of Werner's syndrome associated with recurrent delusional psychosis in the presence of cognitive impairment and computerised tomography (CT) radiological changes in the posterior cerebral cortex.
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6/9. Acral lentiginous melanoma and lentigo maligna occurring in Werner's syndrome.

    Werner's syndrome is an adult progeria that predisposes affected individuals to various cutaneous and internal malignant neoplasms. Herein we report on a patient with Werner's syndrome who developed two primary melanocytic tumors.
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7/9. sister chromatid exchange frequencies in progeria and werner syndrome patients.

    An analysis of the baseline and mitomycin-C-induced sister chromatid exchange (SCE) frequencies in peripheral lymphocytes derived from three patients with progeria and three werner syndrome patients is presented. SCE frequencies did not differ significantly between the two groups of patients and their normal controls.
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8/9. Aortic homograft and mitral valve repair in a patient with Werner's syndrome.

    We report the case of a 66-year-old man suffering from Werner's syndrome (adult progeria); he presented with several cardiac disorders, including coronary artery disease, aortic stenosis, and mitral regurgitation, mainly due to calcific deposits in the mitral annulus and the aortic cusps. Treatment consisted of mitral repair, homograft replacement of the aortic valve, and coronary artery bypass grafting. Avoidance of prosthetic material because of chronic infectious skin ulcers constituted the main goal of the operation.
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9/9. A patient with Werner's syndrome and erythroleukemia: just coincidence?

    Werner's syndrome is a rare clinical entity and approximately 150 cases have been reported in the medical literature. Werner's syndrome, inherited by autosomal recessive transmission, is characterized primarily by a short stature, premature greying and balding, trophic ulceration of the legs, diabetes mellitus and hypogonadism. These features combine to present a picture of adult progeria. In this brief report we describe a 51-year-old Bedouin male with Werner's syndrome, diagnosed as erythroleukemia (AML-6), and presenting as acute pancytopenia. The patient died two months after diagnosis. This is a rare case of erythroleukemia in a patient with Werner's syndrome. We survey current knowledge of the cytogenetic pathogenesis of Werner's syndrome and erythroleukemia, and attempt to explain the possible link between these two rare syndromes.
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