Chu Eric Chun-Pu, Tao Cliff, Cheung Gordon
Chiropractic and Physiotherapy Centre, New York Medical Group, Hong Kong, CHN.
Chiropractic Radiology, Private Practice, Irvine, USA.
Cureus. 2025 Apr 28;17(4):e83149. doi: 10.7759/cureus.83149. eCollection 2025 Apr.
We report a case of multifocal Langerhans cell histiocytosis (LCH) in a previously healthy four-year-old male child who initially presented to the chiropractic clinic with a three-week history of progressive left-sided limping and nocturnal leg pain. Upon evaluation, the patient demonstrated an antalgic gait, point tenderness over the left femur and tibia, and constitutional symptoms including low-grade fevers, fatigue, and recent weight loss. Radiographic evaluation revealed multiple lesions in the left femur, tibia, and pelvis, with subsequent MRI confirming infiltrative lesions and a pathological fracture of the femoral neck. PET scan identified additional lesions in the skull, spine, and right humerus with no visceral involvement. Biopsy of the femoral lesion confirmed LCH with CD1a and CD207 (langerin) positivity and BRAF V600E mutation. The patient was classified as having multifocal bone disease without risk of organ involvement, and treatment was commenced with vinblastine and prednisone per standard protocol. This case highlights the importance of recognizing red flag symptoms in pediatric limping presentations, demonstrates the critical role played by non-oncology providers in early detection of serious pathology, and illustrates the characteristic radiographic and histopathological features of multifocal LCH. The case further emphasizes how recent advances in understanding LCH's molecular pathogenesis as a clonal neoplastic disorder driven by mitogen-activated protein kinase (MAPK) mutations have refined our approach to the diagnosis and treatment of this rare but significant pediatric condition.
我们报告了一例多灶性朗格汉斯细胞组织细胞增多症(LCH),患儿为一名此前健康的4岁男童,最初因持续三周的进行性左侧跛行和夜间腿痛前往整脊诊所就诊。经评估,患者表现出疼痛性步态、左股骨和胫骨压痛,以及包括低热、疲劳和近期体重减轻在内的全身症状。影像学评估显示左股骨、胫骨和骨盆有多处病变,随后的MRI证实为浸润性病变以及股骨颈病理性骨折。PET扫描发现颅骨、脊柱和右肱骨有其他病变,无内脏受累。股骨病变活检证实为LCH,CD1a和CD207(朗格素)呈阳性,且存在BRAF V600E突变。该患者被归类为多灶性骨病,无器官受累风险,遂按照标准方案开始使用长春碱和泼尼松进行治疗。本病例强调了在小儿跛行表现中识别警示症状的重要性,展示了非肿瘤专科医生在早期发现严重病变中所起的关键作用,并阐明了多灶性LCH的典型影像学和组织病理学特征。该病例进一步强调,随着对LCH作为一种由丝裂原活化蛋白激酶(MAPK)突变驱动的克隆性肿瘤性疾病的分子发病机制的最新认识进展,我们对这种罕见但重要的儿科疾病的诊断和治疗方法得到了改进。