Internal medicine
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A 61-year-old Japanese man with the pure spinal form of cerebrotendinous xanthomatosis developed dysesthesia of the lower limbs and gait disturbance at 57 years of age. At 61 years old, he was unable to walk without support. A neurological examination showed spasticity and sensory disturbance in the lower limbs. ⋯ R474W, and a novel p. R262C variant. Combination therapy with chenodeoxycholic acid and 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase decreased his serum cholestanol level.
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Case Reports
A Case of Hyperparathyroidism Which Developed After Resection of a Fibroblast Growth Factor 23-producing Tumor.
A 53-year-old woman presented with bone pain and was diagnosed with osteomalacia because of hypophosphatemia, hyperphosphatasemia, bone pain, and radiographic findings. Because her intact-fibroblast growth factor 23 (FGF23) levels were high and contrast-enhanced computed tomography revealed a mass in the anterior ethmoid sinus, FGF23-related osteomalacia was diagnosed. ⋯ To our knowledge, this is the first case of a FGF23-producing tumor complicated by PHPT. Because PHPT manifested after resecting the FGF23-producing tumor, FGF23 is thus considered to suppress PTH secretion in humans.
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A 46-year-old man with Klinefelter syndrome (KS) presented with obliterative phlebitis of the lower legs with a deteriorated renal function, and elevated serum alkaline phosphatase and ataxia levels. Examinations demonstrated tubulointerstitial nephritis, obliterative phlebitis and lymphadenopathy with IgG4+ plasma cell infiltrate and sclerosing cholangitis. ⋯ IgG4-related disease (IgG4-RD) with KS was finally diagnosed, and high dose prednisolone with intravenous cyclophosphamide was initiated and thereafter the patient demonstrated a prompt improvement. This is the first known case demonstrating overlapping IgG4-RD with lupus-like serological and neurological features in a patient with KS, thus highlighting the pathogenic role with the genomic background for IgG4-RD and SLE.
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Case Reports
A Case of Monomorphic Epitheliotropic Intestinal T-cell Lymphoma Involving the Lung and Brain: A Rare Case Study.
Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) is a primary intestinal T-cell lymphoma and other organ involvement is very rare. A rare case of MEITL involving the lung and brain is herein reported. ⋯ Moreover, the pathological findings of lung specimens taken by bronchoscopy were consistent with those of the small intestine. It is therefore important to include the possibility of MEITL in the differential diagnosis of cancer patients.
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Case Reports
Malignant Peritoneal Mesothelioma Presenting with Polymyalgia Rheumatica-like Syndrome.
A 30-year-old man was admitted to our hospital because of pain in his proximal extremities. The pain mimicked polymyalgia rheumatica (PMR) and it temporarily improved by a low dose of glucocorticoids, but his symptoms relapsed many times. ⋯ Finally, we diagnosed this PMR-like syndrome to be paraneoplastic syndrome with MPM. Although cases of MPM complicated by PMR-like syndrome are rare, MPM should be taken into account in the differential diagnosis.