Cases reported "Werner Syndrome"

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1/9. A case of Werner's syndrome associated with osteosarcoma.

    We described a case of Werner's syndrome associated with osteosarcoma. A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning of the entire skin and hyperkeratoses on soles, hyperlipemia, hyperuricemia, diabetes melitus, and the mutated responsible gene (WRN). He had a 3-month history of a tumor on his left forearm. Histologically, the tumor included four histological patterns; a malignant fibrous histiocytoma-like, a desmoid-like, a dermatofibrosarcoma protuberans-like, and a chondrosarcoma-like pattern. Tumoral osteoid formation was also found in the tumor. Therefore, the tumor was diagnosed as osteosarcoma.
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2/9. Hoarse voice resulting from premature ageing in Werner's syndrome.

    Werner's syndrome is characterized by clinical signs of premature ageing. A 42-year-old man presented with three-year history of hoarseness. Also noted were skin atrophy of the face and hands, ulcerations around the ankles, and a history of cataracts. A clinical diagnosis of Werner's syndrome was made. laryngoscopy revealed bowed vocal folds resulting in a spindle-shaped defect with glottal incompetence during phonation. Examination also revealed decreased maximum phonation time and vocal fatigue. At surgery, atrophy of the vocalis muscle was noted. Furthermore, degeneration of muscle fibres was noted in the temporalis muscle. The atrophic changes in the vocal folds that occur with ageing and result in an increased fundamental frequency were seen in this patient. The characteristic hoarseness of Werner's syndrome appears to be the result of premature ageing of the vocal-folds.
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3/9. Evaluation of insulin response in glucose tolerance test in a patient with Werner's syndrome: a 16-year follow-up study.

    To clarify the effect of Werner's syndrome (WS) on beta-islet cell function, the oral glucose tolerance test (OGTT) was repeatedly performed over a period of 16 years in one patient with WS. The data obtained on insulin secretion were assessed in this study. The patient was a 50-yr-old woman of consanguineous parentage. She presented with gray hair, cataracts, a beak-shaped nose and high-pitched voice. She was diagnosed as WS on the basis of her characteristic appearance. OGTT was performed 14 times during 9 admissions to our hospital. After ingestion of glucose, plasma glucose (PG) levels and immuno-reactive insulin (IRI) at 0, 30, 60, 90, 120 and 180 min were determined. PG levels during OGTT gradually increased during dietary therapy and, at the age of 48, insulin treatment was started [PG level at 120 min during OGTT at 46 yr (before treatment) was 1.5 times that at 34 yr]. Insulin secretion had also gradually decreased during the follow-up period (sum of IRI at 34 yr during OGTT post-treatment; 550.8 IU/ml, sum of IRI at 50 yr during OGTT post-treatment; 244.5 IU/ml). However, the insulinogenic indices were maintained at almost the same level value. Our results indicate that insufficient insulin secretion, which could not overcome insulin resistance, might play a crucial role in the pathophysiology and progression of diabetes in WS along with insulin resistance due to a post-receptor defect.
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4/9. diagnosis of werner syndrome by immunoblot analysis.

    werner syndrome (WS) is caused by mutations in the gene encoding RecQ type dna helicase (WRN). We report a 53-year-old Japanese male with WS who initially presented with skin ulcers on the feet and the left elbow. The patient had a high-pitched voice, hoarseness, a characteristic bird-like facial appearance with a beak-shaped nose, canities and juvenile cataracts. Immunoblot analysis using a monoclonal antibody directed against the WS gene product dna helicase revealed that the patient's leucocytes lacked this particular molecule, confirming the diagnosis of WS. This new immunoblot system therefore enables the diagnosis of WS to be made without the need to undertake more complex mutational analysis.
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5/9. A novel mutation in a patient with Werner's syndrome.

    BACKGROUND: Werner's syndrome, a rare autosomal recessive disorder, is characterized by features of premature aging. Seventy-five percent of the alleles of Japanese patients with Werner's syndrome have one of three major mutations. OBJECTIVE: To determine the genotype of a patient with Werner's syndrome. methods: We diagnosed Werner's syndrome in a 47-year-old Japanese man who had juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, a high-pitched voice, characteristic bird-like appearance of the face with a beak-shaped nose, thinning of the skin over the whole body and hyperkeratoses on the soles of the feet, hyperlipidemia, and diabetes mellitus. None of his immediate family had entered into a consanguineous marriage. He had undergone surgery to treat duodenal perforation. We screened his family for three major mutations (mutations 1, 4, 6) in the WRN gene by polymerase chain reaction-restriction fragment length polymorphism. Automated dna sequencing fluorescence-labeled dideoxy terminators proceeded for abnormally migrating bands. RESULTS: The patient and his mother had mutation 1 (nonsense mutation) in one chromosome. Although mutations 4 and 6 were undetectable, screening for mutation 4 revealed an abnormally migrating band. Consequently, we discovered a novel 4-bp deletion in exon 25 only in the patient. This mutation was not detected in any other family member. CONCLUSION: This is the first description of a patient with Werner's syndrome who has a compound heterozygote of mutation 1 and a novel deletion mutation.
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6/9. A possible case of werner syndrome presenting with multiple cancers.

    The treatment of a man with six metachronous primary cancers is described. The primary lesions were in the soft palate, both edges of the tongue, the hard palate, the esophagus, and the right ureter. Pathologically, all of the first five tumors in the head and neck and esophagus were proven to be squamous cell carcinoma with various grades of differentiation, and the last one was transitional cell carcinoma. The cancers were found in the early clinical stage, and were completely controlled one by one except for the ureteral tumor under treatment. His characteristic medical history and physical findings, i.e. bilateral cataracts, short stature, baldness, diabetes mellitus, high-pitched voice, and multiple malignancies, met the clinical criteria for possible werner syndrome, a genetic premature aging disorder, though the possibility of phenocopy of this syndrome has not been ruled out. We have followed him carefully because he might be vulnerable to malignant tumor formation.
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7/9. meningioma arising in werner syndrome confirmed by mutation analysis.

    OBJECTIVE AND IMPORTANCE: meningioma arising in werner syndrome has been described previously, but never in association with a mutation analysis. We present the first reported case of meningioma in a patient with werner syndrome and a confirmed major mutation. In addition, we review 27 previously reported patients with meningioma associated with werner syndrome. CLINICAL PRESENTATION: We report a 56-year-old Japanese woman with werner syndrome and a meningioma. She presented with pain and redness of the right eye and a headache. Cranial CT revealed a tumor the in right frontal and temporal lobes. Pathological examination after surgical removal confirmed meningioma. She displayed typical features of werner syndrome including juvenile cataract, short stature and low weight, a bird-like face, a hoarse voice, and dry, atrophic, pigmented skin. INVESTIGATION: To confirm the clinical diagnosis, a mutation analysis based on the mutant allele-specific amplification (MASA) method was performed. CONCLUSION: mutation analysis of peripheral blood leukocyte dna showed amplification of the mutation 4/4. There were 22 patients with werner syndrome and meningioma reported from japan and 5 from outside japan. There was only one malignant meningioma. Meningiomas in werner syndrome have a higher frequency in males and occur at a younger age than those of the general population.
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8/9. 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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9/9. A case of Werner's syndrome associated with systemic lupus erythematosus.

    The case of a 40-year-old woman with Werner's syndrome associated with systemic lupus erythematosus (SLE) is reported. The patient exhibited short stature, slender extremities, thinned hair, high-pitched voice, cataracts, ulceration of the fingers, and mental retardation. Malar erythema, photosensitivity, and proteinuria had been noted since age 34. The serum contained high titers of antibodies to dsDNA, Sm, nRNP, and SS-A/Ro. The simultaneous presence of Werner's syndrome and SLE could be a coincidental occurrence of the two diseases, although it might be due to an abnormality in replication or degeneration of dna leading to the development of both diseases.
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