Internal medicine
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Rosai-Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytosis. Although 20% of patients with RDD have spontaneous remission, some cases with central nervous system (CNS) involvement require surgery or systemic treatment. ⋯ Repeated intravenous methylprednisolone (IVMP) administration resolved and stabilized the hypertrophic pachymeningitis without any sequelae. If surgery or anticancer medications are contraindicated, repeated IVMP may be a good therapeutic option for CNS-associated RDD.
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Primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma (PCAE-CTL) is a rare subtype of cutaneous T-cell lymphoma with a poor prognosis. We herein report a case of PCAE-CTL accompanied by anti-Ma2 antibody-positive paraneoplastic encephalitis. ⋯ She was diagnosed with concurrent anti-Ma2 antibody-positive paraneoplastic encephalitis. In cases of lymphoma with brain lesions, invasion of the central nervous system by lymphoma and paraneoplastic encephalitis should be considered.
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This report describes the case of a 29-year-old patient with chronic myeloid leukemia in the blast phase who underwent hematopoietic stem cell transplantation (HSCT) after living-donor liver transplantation. Donor selection, conditioning regimens, and graft-versus-host disease (GVHD) prophylaxis are discussed. ⋯ Maintenance therapy with ponatinib effectively maintained remission. This case highlights the complexities of managing HSCT after solid organ transplantation and suggests strategies for future cases.
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Although sarcoid-like reactions are uncommon in colorectal cancer, they can coexist with other cancers. We herein report a 50-year-old woman with sigmoid adenocarcinoma and osseous sarcoid-like reactions that resembled metastases. ⋯ Bone and lymph node biopsies revealed epithelioid non-caseating granulomas with bone trabeculae, resulting in a final diagnosis of pathological T2N2aM0, Stage IIIB. When the expected depth of invasion differs from that of typical bone metastases, colorectal cancer-associated bone lesions should be evaluated for sarcoid-like reactions.
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Objective Spastic paraplegia 7 (SPG7) is an autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in SPG7. It is predominantly characterized by adult-onset slowly progressive spastic paraparesis. While SPG7 presenting with ataxia with or without spasticity is relatively common in Europe and North America, it is considered rare in Japan. ⋯ In addition, Patient 1 exhibited partial ophthalmoplegia and spastic paraparesis, whereas Patient 2 demonstrated cerebellar ataxia without spasticity. Conclusion The rarity of SPG7 in Japan may be attributed to variation in the minor allele frequency of the c.1529C>T, p. Ala510Val variant, which is more prevalent in Europe and North America than in other areas.