Internal medicine
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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 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 IgG4-related Disease Manifesting as Gastroduodenal Ulcer Diagnosed by an Endoscopic Biopsy.
A 26-year-old man was admitted to our hospital due to upper abdominal pain. He had previously been diagnosed with gastroduodenal ulcer at 23 and 25 years old and had been treated with proton-pump inhibitors. ⋯ Based on the clinicopathologic findings and after excluding other causes, he was diagnosed with IgG4-related gastroduodenal ulcer. We herein report a rare case of IgG4-related disease manifesting as a gastroduodenal ulcer diagnosed by an endoscopic biopsy.
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We encountered a patient with multiple myeloma treated with autologous hematopoietic stem cell transplantation (HSCT) who developed repeated episodes of enteritis but regressed spontaneously. An endoscopic examination revealed no abnormalities, but biopsy specimens showed massive infiltration of CD4+ and Epstein-Barr encoding region (EBER+) abnormal lymphocytes in which a high copy number of Epstein Barr virus (EBV) genomes was detected by quantitative polymerase chain reaction (qPCR). EBV infection was exclusively detected in CD4+ T-cells, leading to a diagnosis of EBV-positive CD4+ T-cell lymphoproliferative disorder (LPD). This case suggests that an immediate biopsy and examinations, including qPCR for EBV DNA, should be considered for patients with recurrent enteritis after autologous HSCT, regardless of endoscopic findings.
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A 70-year-old woman was referred to our department due to a solitary mediastinal tumor which gradually grew near the site of anastomosis for 8 years after radical surgery of esophageal squamous cell carcinoma. It was difficult to distinguish the lymph node recurrence of esophageal cancer from another tumor of unknown primary origin. ⋯ After the completion of chemoradiotherapy, the tumor disappeared. A solitary growing tumor which develops after radical resection of cancer would be better to be examined histologically in order to make an accurate diagnosis and select the most appropriate treatment.