Internal medicine
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A 93-year-old man presented to our hospital with a fever, abdominal pain, and jaundice. Computed tomography revealed bilateral bile duct dilation, cystic lesions with bile duct communication, and intraluminal solid nodules arising from the bile duct wall. The patient was diagnosed with intraductal papillary neoplasm of the bile duct. ⋯ It was impossible to control cholangitis using conventional endoscopic therapy. We therefore created an access route to the bile duct using endoscopic ultrasound-guided choledochoduodenostomy and inserted a lumen-apposed metal stent. Thereafter, we performed argon plasma coagulation of the tumor in the bile duct, which successfully prevented cholangitis recurrence.
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Nontuberculous mycobacterial (NTM) infection sometimes leads to the development of pulmonary artery aneurysm (PAA), a rare but life-threatening complication. We herein report a 64-year-old woman with a history of NTM infection who presented with severe hemoptysis. ⋯ This case emphasizes the need to consider PAA in patients with NTM infection who present with hemoptysis. Early detection and appropriate management are critical for preventing this fatal complication.
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Case Reports
Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.
We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). ⋯ Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders.