Department of Neurosurgery, The First Hospital of Jilin University, Changchun, Jilin, China.
Department of Pathology, The First Hospital of Jilin University, Changchun, Jilin, China.
Medicine (Baltimore). 2023 May 19;102(20):e33846. doi: 10.1097/MD.0000000000033846.
Erdheim-Chester disease (ECD) is a rare progressive disease affecting multiple systems. It has recently been recognized as a neoplastic disease following the discovery of activating mutations in the MAPK pathway. There are several striking signs of ECD, such as the long bone involvement, as well as the hairy kidney appearance on computed tomography scan. It is rare for ECD to manifest neurological symptoms. Central nervous system involvement is a strong prognostic factor and independent predictor of death. ECD is characterized by the overproduction and accumulation of foamy histiocytes and Touton's giant cells in various tissues and organs. ECD is a multisystem disorder in which any organ may be affected.
This case report describes a 57-year-old woman with headaches and ataxia as the first clinical manifestation, without characteristic bone pain, but with delayed enuresis. In addition to the renal involvement, this patient had rarer splenic involvement.
The imaging presentation of this patient was similar to that of a "multiple meningiomas". A combination of clinical, imaging and pathology for the diagnosis of ECD.
Patients were given INF-α therapy.
Fortunately, the patient responded well to INF-α treatment.
ECD patient with neuro-endocrine symptoms.
Erdheim-Chester 病（ECD）是一种影响多系统的罕见进行性疾病。在发现 MAPK 通路的激活突变后，它最近被认为是一种肿瘤性疾病。ECD 有几个显著的特征，如长骨受累，以及计算机断层扫描（CT）上的“多毛肾”外观。ECD 表现出神经系统症状较为罕见。中枢神经系统受累是一个强烈的预后因素和独立的死亡预测因素。ECD 的特征是在各种组织和器官中过度产生和积累泡沫状组织细胞和 Touton 巨细胞。ECD 是一种多系统疾病，任何器官都可能受到影响。
本病例报告描述了一位 57 岁女性，以头痛和共济失调为首发临床表现，无特征性骨痛，但有遗尿延迟。除了肾脏受累外，该患者还有更罕见的脾脏受累。
该患者的影像学表现类似于“多发脑膜瘤”。综合临床、影像学和病理学表现诊断为 ECD。
患者接受了 INF-α 治疗。
幸运的是，患者对 INF-α 治疗反应良好。
ECD 患者伴有神经内分泌症状。
