朗格汉斯细胞组织细胞增多症（LCH）是一种罕见的骨髓源性肿瘤，主要影响儿童。它是一种多器官疾病，下丘脑-垂体受累并不常见。 LCH 揭示了广泛的适应症；因此，诊断和治疗通常具有挑战性。一名22岁男性，因多饮、多尿，放射学检查结果非特异性，后来出现下颌病变，进行活检，诊断为LCH。由于诊断不明确，经过多次不当治疗，患者最终接受化疗，目前正在接受监测。LCH是一种罕见疾病，临床表现多样，累及多个器官。相关突变，例如 BRAF V600E，导致其复杂性。在成人中，最初的症状包括疼痛、体重减轻和发烧，潜在的垂体受累会导致精氨酸加压素 (AVP) 缺乏。常见受影响的器官包括骨骼、皮肤和脑下垂体。该病可分为单系统疾病和多系统疾病。病理诊断涉及电子显微镜或免疫组织化学染色。治疗方案各不相同；该病例在转用环磷酰胺治疗多系统 LCH 之前使用了醋酸去氨加压素和泼尼松龙。AVP 缺乏可能提示下丘脑-垂体 LCH，如果可能，建议进行活检以确认诊断。版权所有 © 2024 作者。由 Wolters Kluwer Health, Inc. 出版

Langerhans cell histiocytosis (LCH) is a rare bone marrow derived neoplasm that mainly affects children. It is a multiorgan disorder and hypothalamic-pituitary involvement is uncommon. LCH reveals a wide spectrum of indications; thus, the diagnosis and treatment are usually challenging.A 22-year-old male presented with polydipsia, polyuria with nonspecific radiological findings, later on, developed a mandibular lesion and a biopsy was conducted which led to LCH diagnosis. After many improper treatments due to unclear diagnosis, the patient was finally placed on chemotherapy and is now under surveillance.LCH is a rare disease with diverse clinical manifestations affecting various organs. Associated mutations, such as BRAF V600E, contribute to its complexity. In adults, initial symptoms include pain, weight loss, and fever, with potential pituitary involvement leading to Arginine vasopressin (AVP) deficiency. Commonly affected organs include bone, skin, and the pituitary gland. The disease can be categorized into single-system and multisystem. Pathological diagnosis involves electron microscopy or immunohistochemical staining. Treatment options vary; the presented case utilized Desmopressin acetate and prednisolone before transitioning to cyclophosphamide for multisystemic LCH.AVP deficiency can suggest hypothalamic-pituitary LCH, and a biopsy, if possible, is recommended to confirm the diagnosis.Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.