PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: AVP deficiency can suggest hypothalamic-pituitary LCH, and a biopsy, if possible, is recommended to confirm the diagnosis.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: AVP deficiency can suggest hypothalamic-pituitary LCH, and a biopsy, if possible, is recommended to confirm the diagnosis.
摘要：
■朗格汉斯细胞组织细胞增生症（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岁男性出现多饮,多尿伴非特异性放射学发现，稍后，发展为下颌骨病变，并进行了活检，从而诊断为LCH。在由于诊断不明确而导致许多不当治疗之后，该患者最终接受了化疗，目前正在接受监测。
■LCH是一种罕见的疾病，临床表现多样，影响各个器官。相关突变，如BRAFV600E，有助于其复杂性。在成年人中,最初的症状包括疼痛，减肥,发烧，潜在的垂体受累导致精氨酸加压素（AVP）缺乏。通常受影响的器官包括骨骼，皮肤,还有脑垂体.该疾病可分为单系统和多系统。病理诊断涉及电子显微镜或免疫组织化学染色。治疗选择各不相同；在过渡到环磷酰胺治疗多系统LCH之前，该病例使用了醋酸去氨加压素和泼尼松龙。
■AVP缺乏可以提示下丘脑-垂体LCH，还有活检,如果可能,建议确认诊断。
■一名22岁男性出现多饮,多尿伴非特异性放射学发现，稍后，发展为下颌骨病变，并进行了活检，从而诊断为LCH。在由于诊断不明确而导致许多不当治疗之后，该患者最终接受了化疗，目前正在接受监测。
■LCH是一种罕见的疾病，临床表现多样，影响各个器官。相关突变，如BRAFV600E，有助于其复杂性。在成年人中,最初的症状包括疼痛，减肥,发烧，潜在的垂体受累导致精氨酸加压素（AVP）缺乏。通常受影响的器官包括骨骼，皮肤,还有脑垂体.该疾病可分为单系统和多系统。病理诊断涉及电子显微镜或免疫组织化学染色。治疗选择各不相同；在过渡到环磷酰胺治疗多系统LCH之前，该病例使用了醋酸去氨加压素和泼尼松龙。
■AVP缺乏可以提示下丘脑-垂体LCH，还有活检,如果可能,建议确认诊断。
