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一名儿科患者患罕见的朗格汉斯细胞组织细胞增多症,伴有不明原因的内分泌功能障碍和广泛的骨骼受累。

A rare case of Langerhans cell histiocytosis with unexplained endocrine dysfunction and extensive skeletal involvement in a Pediatric patient.

作者信息

Díaz Q Carlos, Orellana Marcos, Chajon Rolando, Valenzuela José, Chajon Pedro

机构信息

Department of Research, Universidad Francisco Marroquín, 13 Av, Guatemala City 01011.

出版信息

Oxf Med Case Reports. 2025 Sep 15;2025(9):omaf155. doi: 10.1093/omcr/omaf155. eCollection 2025 Sep.

Abstract

Langerhans cell histiocytosis (LCH) is a rare disorder in which Langerhans cells infiltrate various organs, causing damage to tissues. This case describes a 6-year-old male diagnosed with LCH, who presented with worsening symptoms of fatigue, excessive thirst, polyuria, and unexplained weight gain. Radiographic findings revealed extensive osteolytic lesions in the skull and long bones, consistent with LCH. Additionally, the patient developed significant endocrine dysfunction, including hypothyroidism, diabetes insipidus, and adrenal insufficiency, as confirmed through hormonal assays and imaging. The case emphasizes the importance of considering endocrine dysfunction in patients with LCH and underscores the role of a multidisciplinary approach in managing complex cases. Hormonal replacement therapy, along with chemotherapy for LCH, was initiated, and the patient showed clinical improvement.

摘要

朗格汉斯细胞组织细胞增多症(LCH)是一种罕见的疾病,其中朗格汉斯细胞浸润各种器官,对组织造成损害。本病例描述了一名6岁男性被诊断为LCH,他出现了疲劳、口渴、多尿和不明原因体重增加等症状加重的情况。影像学检查结果显示颅骨和长骨有广泛的溶骨性病变,与LCH相符。此外,通过激素检测和影像学检查证实,该患者出现了明显的内分泌功能障碍,包括甲状腺功能减退、尿崩症和肾上腺功能不全。该病例强调了在LCH患者中考虑内分泌功能障碍的重要性,并强调了多学科方法在处理复杂病例中的作用。启动了激素替代疗法以及针对LCH的化疗,患者的临床症状有所改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/471f/12448402/a0a775d3203d/omaf155f1.jpg

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