Internal medicine
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Case Reports
Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14: A Case Report.
Spinocerebellar ataxia type 14 (SCA14) is a rare form of autosomal dominant cerebellar ataxia caused by mutations in PRKCG. We herein report a case of SCA14 presenting with writer's cramp that predated the onset of progressive ataxia by four years. ⋯ C142S), leading to an SCA14 diagnosis. Therefore, writer's cramp might be a characteristic extracerebellar sign of SCA14 and can precede the onset of cerebellar ataxia.
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An 83-year-old man with hepatocellular carcinoma developed muscle weakness, ptosis, and dyspnea 3 weeks after receiving atezolizumab. Soon after, mechanical ventilation was initiated, which was followed by marked blood pressure spikes. ⋯ After immunotherapy, the serum markers and blood pressure normalized, and he was weaned from the ventilator after five months. To our knowledge, this is the first reported case of AAG secondary to ICI-induced myositis, MG, and myocarditis.
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A 26-year-old man presented with a tumor in the left soleus muscle. The tumor was diagnosed as a locally advanced leiomyosarcoma. The patient was treated with irradiation followed by wide resection. ⋯ To explore therapeutic options for the patient, we performed DNA-based CGP with FoundationOne® CDx (F1). F1 identified an out-of-strand rearrangement of the NOS1AP::NTRK1 gene, which has not been previously reported. In contrast, RNA sequencing revealed an in-frame LMNA::NTRK1 gene, which is an oncogenic fusion gene.
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A 51-year-old man presented with sudden-onset palpitations and dyspnea that had started 8 h earlier. The patient was restless and tachypneic and had persistent vomiting upon arrival. ⋯ The theophylline level on arrival had been elevated (9.0 μg/mL). Caffeine intoxication should be considered in patients presenting with restlessness, tachypnea, frequent vomiting, lactic acidosis, and electrolyte abnormalities.
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Case Reports
A Case of Overlap of Chronic Pulmonary Aspergillosis on Allergic Bronchopulmonary Aspergillosis.
An 80-year-old woman who developed allergic bronchopulmonary aspergillosis (ABPA) was admitted to our institution in 2023 for an enlarged pulmonary mass lesion. She had developed ABPA in 2017, and corticosteroid therapy had improved the mucoid impaction of the bronchi. ⋯ Bronchoscopy showed necrotic tissue in the bronchial lumen, and bronchial washing fluid showed neutrophilic inflammation and fungal hyphae. We subsequently diagnosed her as having chronic pulmonary aspergillosis overlapping ABPA, and voriconazole was started that resulted in shrinkage of the nodules.