Bệnh mô bào tế bào Langerhans phổi ở trẻ em: Báo cáo một ca bệnh hiếm

Abstract

Pulmonary Langerhans Cell Histiocytosis (pLCH) is a rare condition in children and belongs to the group of histiocytic disorders characterized by clonal proliferation of Langerhans cells. Diagnosis is often challenging because clinical manifestations and radiological findings are nonspecific and may mimic prolonged pneumonia or infectious interstitial lung disease. We report a case of a 34-month-old male child admitted with a three-month history of persistent cough and progressive respiratory failure, who showed no clinical improvement despite prolonged broad-spectrum antibiotic therapy. Chest imaging revealed diffuse interstitial lung involvement. Lung biopsy combined with molecular analysis identified a BRAF V600 mutation, leading to a definitive diagnosis of pulmonary Langerhans cell histiocytosis. Targeted therapy in combination with vinblastine resulted in marked clinical improvement, allowing discontinuation of oxygen therapy. This case highlights the importance of considering non-infectious causes in children with progressive interstitial lung disease and emphasizes the role of lung biopsy and genetic testing in establishing an accurate diagnosis to guide appropriate treatment.