Internal medicine
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Case Reports
X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement.
X-linked myotubular myopathy (XLMTM) is a rare genetic disorder caused by X-linked mutations in the MTM1 gene. Although heterozygous females are typically asymptomatic, affected cases have recently been reported. We herein report a case of XLMTM manifesting carrier of the pathogenic c.206dupG mutation in MTM1 with uncommon extramuscular symptoms. ⋯ Electrophysiological studies and brain magnetic resonance imaging indicated the involvement of the central and peripheral nervous systems. XLMTM manifesting carriers may have a wider spectrum of clinical phenotypes than currently assumed. Appropriate follow-up of extramuscular and conventional muscular manifestations is important in such cases.
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A 51-year-old woman with fever was admitted to our hospital. A computed tomography (CT) scan showed thickened colonic walls. Colonoscopy revealed erosion in the ileum and colon. ⋯ The reappearance of a skin rash confirmed an exacerbation of AOSD. Tocilizumab treatment alleviated the symptoms and improved the endoscopic findings. Considering their correlation with the symptoms and endoscopic findings, the observed gastrointestinal lesions may be linked to AOSD.
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In this report, we describe a unique case of an 80-year-old woman who developed chronic bromine poisoning due to the prolonged ingestion of over-the-counter (OTC) medication containing bromovalerylurea (BVU), thus leading to the onset of drug-induced partial Fanconi syndrome and resultant osteomalacia. The patient's condition improved following the cessation of bromide intake. This case highlights the potential risks of chronic BVU exposure and the importance of caution regarding the use of OTC medications containing BVU.
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Objective We investigated the current perspectives regarding the management of late-onset rheumatoid arthritis (LORA) among rheumatologists in clinical practice. Methods This study was performed in October 2021, and included 65 rheumatologists certified by the Japan College of Rheumatology, who were administered questionnaires (including multiple choice and descriptive formulae) regarding the management of LORA. ⋯ Most rheumatologists are concerned about the management of conditions other than RA, such as comorbidities, financial constraints, and life circumstances that interfere with standard or recommended treatment implementation. Conclusion This preliminary survey highlighted various rheumatologists' perspectives regarding the management of LORA.
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A 78-year-old man with atherosclerosis was diagnosed with hepatocellular carcinoma by transfemoral angiography of the celiac and superior mesenteric arteries (SMA). After surgery, a serum examination revealed progressive renal failure with eosinophilia, leading to end-stage kidney disease, in addition to active gastric ulcers and pancreatitis. ⋯ Autopsy revealed that CCE involved the arterioles of multiple organs, and its distribution was anatomically consistent with the vascular territories of the celiac artery and SMA. CCE should therefore be considered in patients presenting with multiple types of tissue damage in the vascular territories after angiography.