Congenital Langerhans cell histiocytosis (LCH) (formerly called Letterer–Siwe disease) is characterized by a clonal proliferation of Langerhans cells occurring in children at birth and manifests typically with multifocal cutaneous lesions, hepatosplenomegaly, lymphadenopathy, pulmonary lesions, and destructive osteolytic bone lesions. We present a case of LCH involving multiple systems high-risk organs (LCH MS-RO+), in a 32-week stillborn from a 20-year-old G2A1. The fetus was mildly hydropic and pale. Apart from maceration, the skin showed multiple targetoid lesions over the face, trunk, and limbs. There was hepatosplenomegaly and a pale brain. The placenta was large and bulky. Despite severe autolysis, histological examination showed disseminated histiocytes with multinucleated giant cells in the skin, lungs, thymus, mesenteric lymph nodes, spleen, and brain. By immunohistochemistry, the histiocytes were positive for S100, CD1a, and Langerin (CD207), confirming the diagnosis of LCH. There was extramedullary hematopoiesis in the spleen, brain, and placenta. Targeted next-generation sequencing performed on thymic DNA did not show the BRAF p.V600E variant but did show the MAP2K1 p.F53_Q58delinsL. Infants with LCH pose a diagnostic challenge due to their heterogeneous presentations. Our case is unusual in that the newborn presented with severe multiorgan involvement including brain and intrauterine death. LCH is still poorly understood requiring further genetic and molecular studies.

先天性朗格汉斯细胞组织细胞增生症 (LCH)（以前称为 Letterer-Siwe 病）的特征是出生时发生在儿童中的朗格汉斯细胞克隆性增殖，通常表现为多灶性皮肤病变、肝脾肿大、淋巴结病、肺部病变和破坏性溶骨性骨病变。我们介绍了一例涉及多系统高危器官 (LCH MS-RO+) 的​​ LCH 病例，该病例是一名 20 岁 G2A1 的 32 周死产。胎儿有轻度水肿和苍白。除浸渍外，皮肤在面部、躯干和四肢出现多处靶样病变。有肝脾肿大和苍白的大脑。胎盘又大又笨重。尽管有严重的自溶，但组织学检查显示在皮肤、肺、胸腺、肠系膜淋巴结、脾、脑。通过免疫组化，组织细胞 S100、CD1a 和 Langerin (CD207) 阳性，证实了 LCH 的诊断。脾脏、大脑和胎盘有髓外造血。对胸腺 DNA 进行的靶向下一代测序未显示 BRAF p.V600E 变体，但确实显示了 MAP2K1 p.F53_Q58delinsL。患有 LCH 的婴儿由于其​​异质性表现而构成诊断挑战。我们的病例很不寻常，因为新生儿出现严重的多器官受累，包括脑死亡和宫内死亡。LCH 仍然知之甚少，需要进一步的遗传和分子研究。和胎盘。对胸腺 DNA 进行的靶向下一代测序未显示 BRAF p.V600E 变体，但确实显示了 MAP2K1 p.F53_Q58delinsL。患有 LCH 的婴儿由于其​​异质性表现而构成诊断挑战。我们的病例很不寻常，因为新生儿出现严重的多器官受累，包括脑死亡和宫内死亡。LCH 仍然知之甚少，需要进一步的遗传和分子研究。和胎盘。对胸腺 DNA 进行的靶向下一代测序未显示 BRAF p.V600E 变体，但确实显示了 MAP2K1 p.F53_Q58delinsL。患有 LCH 的婴儿由于其​​异质性表现而构成诊断挑战。我们的病例很不寻常，因为新生儿出现严重的多器官受累，包括脑死亡和宫内死亡。LCH 仍然知之甚少，需要进一步的遗传和分子研究。