Pan Jianwei, Liu Bo, Zhang Huihua, Li Zhongyue
Department of Pediatrics, The Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, International Institutes of Medicine Zhejiang University Yiwu China.
Department of Gastroenterology Children's Hospital of Chongqing Medical University Chongqing China.
DEN Open. 2024 Sep 27;5(1):e70023. doi: 10.1002/deo2.70023. eCollection 2025 Apr.
Gastrointestinal tract involvement in Langerhans cell histiocytosis (LCH) is extremely rare, with limited documentation of endoscopic manifestations. We report a 19-month-old girl who presented with repeated diarrhea and bloody stools, accompanied by recurrent pulmonary infections, anemia, hypoproteinemia, thrombocytopenia, coagulopathy, and hepatosplenomegaly with lymphadenopathy. Initial treatment with antibacterial agents, mesalazine, thalidomide, and prednisone led to temporary improvement; however, the symptoms repeatedly relapsed. She underwent three digestive endoscopies, but until the third endoscopy, a definitive diagnosis of Langerhans cell histiocytosis was established through biopsy. While upper gastrointestinal tract findings were not significant, notable changes were observed in the colorectal region. A colonoscopy revealed progression from erythema to diffuse hyperemia and edema, with erythema, erosion, and superficial ulcers extending into the distal ileal mucosa. Genetic analysis identified a BRAF-V600E mutation. Following treatment with chemotherapy (vincristine and prednisone) and the BRAF inhibitor dabrafenib, the patient demonstrated significant clinical improvement within days. At the 1-year follow-up, the patient had normal bowel movements and a weight gain of 2.5 kg. Early gastrointestinal endoscopy with multiple biopsies in suspected children can facilitate early detection. Dabrafenib is a viable treatment option for Langerhans cell histiocytosis.
朗格汉斯细胞组织细胞增多症（LCH）累及胃肠道极为罕见，内镜表现的文献记载有限。我们报告一名19个月大的女童，她反复出现腹泻和便血，伴有反复肺部感染、贫血、低蛋白血症、血小板减少、凝血功能障碍以及肝脾肿大伴淋巴结病。最初使用抗菌药物、美沙拉嗪、沙利度胺和泼尼松进行治疗，症状暂时有所改善；然而，症状反复复发。她接受了三次消化内镜检查，但直到第三次内镜检查时，才通过活检确诊为朗格汉斯细胞组织细胞增多症。上消化道检查结果不显著，但在结直肠区域观察到明显变化。结肠镜检查显示从红斑发展为弥漫性充血和水肿，红斑、糜烂和浅表溃疡延伸至回肠远端黏膜。基因分析发现BRAF-V600E突变。在接受化疗（长春新碱和泼尼松）和BRAF抑制剂达拉非尼治疗后，患者在数天内临床症状显著改善。在1年随访时，患者排便正常，体重增加2.5千克。对疑似儿童进行早期胃肠内镜检查并多次活检有助于早期发现。达拉非尼是朗格汉斯细胞组织细胞增多症的一种可行治疗选择。
