Internal medicine
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Lysinuric protein intolerance (LPI) is an autosomal recessive disease and pulmonary alveolar proteinosis is a respiratory complication. A Japanese man in his 30s, diagnosed with LPI in infancy, was diagnosed with interstitial lung disease (ILD) similar to fibrotic nonspecific interstitial pneumonia (f-NSIP) based on the findings of a transbronchial lung cryobiopsy (TBLC). ⋯ Corticosteroid pulse therapy was administered twice, but the patient died approximately one month after emergency hospitalization. This is the first report of a patient with LPI diagnosed with ILD similar to f-NSIP using a cryobiopsy and who was treated with nintedanib.
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Review Case Reports
Metastatic Pleomorphic Carcinoma of the Lung with Extensive Chromosomal Rearrangements: An Autopsy Case with a Literature Review.
We herein report a 47-year-old man who presented with progressive paraparesis. Imaging revealed a right upper pulmonary nodule, massive bilateral adrenal metastases, thoracolumbar vertebral osteolysis, and subcutaneous nodules. ⋯ Autopsy findings confirmed pulmonary pleomorphic carcinoma with extensive metastases. Quantification of chromosomal rearrangements revealed a jump-up mutation from the normal karyotype, followed by a further incremental increase in the degree of deviation.
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A 45-year-old man was diagnosed with CML in the chronic phase and therefore was sequentially treated with imatinib, dasatinib, nilotinib, and ponatinib. Neither ABL1 point mutations nor any additional chromosomal abnormalities were detected. ⋯ Two years after ponatinib administration, the patient died of a traumatic brain hemorrhage 15 years after the CML diagnosis. He did not progress to blast crisis, possibly because of the emergence of a loss-of-function ABL1 splicing variant.
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Case Reports
A 53-year-old Man with Idiopathic Bilateral Chylothorax Refractory to Lymphaticovenular Anastomosis: A Case Report.
A 53-year-old man with chronic dyspnea and bilateral pleural effusion was subsequently diagnosed with idiopathic chylothorax. Lymphatic scintigraphy confirmed lymphatic fluid leakage at the left venous angle, prompting management with lymphaticovenular anastomosis (LVA). ⋯ Approximately three years and three months after the presentation, the patient succumbed to CO2 narcosis and renal failure. It is crucial to study additional cases in order to uncover new causes and develop pathology-based treatments for this condition.