Internal medicine
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Case Reports
FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by motile cilia dysfunction, mostly inherited in an autosomal recessive or X-linked manner. We herein report a 29-year-old woman with PCD caused by a heterozygous frameshift mutation due to a single nucleotide deletion in exon 3 of FOXJ1. Heterozygous de novo mutations in FOXJ1 have been reported as an autosomal-dominant cause of PCD. ⋯ However, the nasal nitric oxide level was normal. Long-term macrolide therapy was remarkably effective. This is the first case report of PCD caused by a FOXJ1 variant in Japan.
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We present the case of a 61-year-old man who developed coronavirus disease 2019 (COVID-19) and died during treatment for relapsing polychondritis. The patient was intubated and treated with steroid pulse therapy, remdecivir, antibacterial agents, baricitinib, and tocilizumab. ⋯ An autopsy revealed diffuse alveolar damage in the fibrotic phase in all lung lobes, diffuse pulmonary ossification, and cytomegalovirus-infected cells in the middle lobe of the right lung. We herein discuss the clinical features and pathological findings of COVID-19 in immunosuppressed patients.
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A 35-year-old woman was admitted for the examination of lower leg edema and proteinuria. A kidney biopsy showed membranous nephropathy (MN) with fine granular deposits of IgG along the glomerular capillary and poor spike formation, differing from primary MN in the presence of positive IgG3 and C1q. ⋯ The patient was diagnosed with syphilis, and the proteinuria disappeared with antibiotic treatment. In MN with positive IgG3 and C1q, syphilis nephropathy may be a differential diagnosis.
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Case Reports
Immune-mediated Necrotizing Myopathy in a Patient with Microscopic Polyangiitis: A Case Report.
We herein report a case of immune-mediated necrotizing myopathy (IMNM) in a patient with microscopic polyangiitis (MPA). A 77-year-old Japanese woman presented with a 2-day history of proximal muscle weakness and myalgia, with elevated serum creatinine kinase (CK) levels. ⋯ She also had peripheral neuropathy with elevated serum myeloperoxidase anti-neutrophil cytoplasmic antibody titers, leading to a diagnosis of MPA. IMNM can be a pathological result of MPA muscle involvement.
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A persistent left superior vena cava (PLSVC) is a commonly observed anatomical anomaly that is frequently detected incidentally via computed tomography (CT) imaging. However, the occurrence of a PLSVC with a right superior vena cava (RSVC) defect, also known as "isolated PLSVC," is a much rarer anomaly. This peculiar malformation can lead to sinoatrial dysfunction, thus necessitating pacemaker implantation, which requires delicate manipulation due to various anatomical complexities. We herein present a case of a sick sinus syndrome with this rare anomaly, which required special consideration when performing pacemaker lead placement.