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一名9个月大女童的股骨孤立性朗格汉斯细胞组织细胞增多症

Solitary Langerhans Cell Histiocytosis of the Femur in a Nine-Month-Old Girl.

作者信息

Abdullah Faliq, Alabd Khaled, Carpenter Clare

机构信息

Trauma and Orthopaedics, University Hospital of Wales, Cardiff, GBR.

出版信息

Cureus. 2025 May 19;17(5):e84389. doi: 10.7759/cureus.84389. eCollection 2025 May.

Abstract

Langerhans cell histiocytosis (LCH) is a rare clonal proliferative disorder of myeloid dendritic cells that can mimic infection or malignancy in paediatric bone lesions. A 9-month-old girl presented with a refusal to weight bear for two days. She was afebrile with mildly elevated inflammatory markers, including C-reactive protein (CRP) of 2 mg/L and white cell count (WCC) of 12×10⁹/L. Radiographs revealed an aggressive lytic lesion in the proximal femur with periosteal reaction. MRI showed a subperiosteal fluid collection suggestive of abscess, bone marrow edema, and adjacent muscle inflammation. The patient underwent curettage of the lesion. Histopathology confirmed LCH, with immunohistochemistry positive for cluster of differentiation (CD)1a, S100, CD68, and Langerin. Molecular analysis detected a V600D mutation. Whole-body MRI confirmed a solitary lesion, consistent with single-system unifocal bone LCH. No systemic therapy was initiated, and the patient was managed conservatively with observation. At six-week follow-up, she demonstrated significant clinical improvement and radiographic healing with no leg length discrepancy. This case highlights the importance of biopsy for diagnosing aggressive bone lesions in infants, as unifocal LCH can mimic osteomyelitis or malignancy. Early recognition and conservative treatment often result in an excellent outcome.

摘要

朗格汉斯细胞组织细胞增多症(LCH)是一种罕见的髓样树突状细胞克隆增殖性疾病,在儿童骨病变中可类似感染或恶性肿瘤。一名9个月大的女孩出现两天不愿负重。她无发热,炎症指标轻度升高,包括C反应蛋白(CRP)为2mg/L,白细胞计数(WCC)为12×10⁹/L。X线片显示股骨近端有侵袭性溶骨性病变并伴有骨膜反应。磁共振成像(MRI)显示骨膜下液体积聚提示脓肿、骨髓水肿及相邻肌肉炎症。患者接受了病变刮除术。组织病理学确诊为LCH,免疫组化显示分化簇(CD)1a、S100、CD68和朗格蛋白呈阳性。分子分析检测到V600D突变。全身MRI证实为孤立性病变,符合单系统单灶性骨LCH。未开始全身治疗,对患者进行保守观察处理。在六周随访时,她临床症状显著改善,影像学显示愈合良好,无腿长差异。该病例强调了活检对诊断婴儿侵袭性骨病变的重要性,因为单灶性LCH可类似骨髓炎或恶性肿瘤。早期识别和保守治疗通常可取得良好预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14e5/12175202/109144db2c3b/cureus-0017-00000084389-i02.jpg

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