Internal medicine
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Case Reports
A Case of Hereditary Coproporphyria in which the Patient's Course Improved after the Discontinuation of Givosiran.
Hereditary coproporphyria (HCP) is caused by a partial deficiency of coproporphyrinogen oxidase during heme biosynthesis. Givosiran is approved for the treatment of acute hepatic porphyria. ⋯ However, givosiran was discontinued after six months due to a decreased renal function. The patient's ALA and PBG levels remained within the normal ranges, and her HCP-related symptoms resolved more than 2 years after the discontinuation of givosiran.
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Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder characterized by lymphadenopathy and extra-nodal manifestations. Some patients with RDD require systemic treatment, but there is no consensus on the treatment strategy owing to its extreme rarity. ⋯ We herein report the first case of RDD with cutaneous involvement and arthritis that was successfully treated with methotrexate and infliximab. This case highlights the potential efficacy of anti-TNF-α therapy for RDD, offering a novel treatment option for this rare condition.
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Vascular occlusive events are notable adverse effects of tyrosine kinase inhibitors (TKIs), which are promising treatments for chronic myeloid leukemia (CML). We herein report the case of a patient with CML who developed cerebrovascular occlusion of the circle of Willis during TKI treatment. ⋯ The lack of moyamoya vessel development may be explained by the suppression of tyrosine kinases that are responsible for angiogenesis. Cerebrovascular occlusion of the circle of Willis, without significant development of moyamoya vessels, may be an important phenotype of TKI-associated vasculopathy.
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A 59-year-old man was admitted to our hospital with hyponatremia. An endocrine examination indicated panhypopituitarism, and magnetic resonance imaging revealed a mass-like lesion in the pituitary gland. Sinus endoscopy revealed a fungal mass in the sphenoid sinus, and the patient was diagnosed with hypopituitarism due to aspergillosis of the central nervous system (CNS). ⋯ Although the right internal carotid artery was eventually occluded, antifungal medications were administered for the aspergillosis, and the patient's general condition improved. The patient's CNS lesions have remained under control since discharge. This is the first case to suggest that ACTH secretion may be relatively preserved in Aspergillus-induced hypopituitarism.
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A 70-year-old woman with anti-aminoacyl-tRNA synthetase (ARS) antibody-positive interstitial lung disease (ARS-ILD) received daily medications and regular cyclophosphamide cycles for recurring exacerbations. Approximately four years after immunosuppression initiation, the patient was admitted for progressive dyspnea on exertion. ⋯ A bronchoalveolar lavage fluid (BALF) examination revealed amorphous globules and alveolar macrophages with eosinophilic granules. Owing to negative anti-granulocyte-macrophage colony-stimulating factor antibody tests, a diagnosis of secondary pulmonary alveolar proteinosis (PAP) was established.