Ding Huanyu, Li Yang, Ruan Caishun, Gao Yuan, Wang Hehua, Zhang Xiangsong, Liao Zhihong
Endocrinology and , the First Affiliated Hospital of Sun Yat-sen University , Guangzhou, 510080 , People's Republic of China.
Department of Pathology , the First Affiliated Hospital of Sun Yat-sen University , Guangzhou, 510080 , People's Republic of China.
Endocrinol Diabetes Metab Case Rep. 2015;2015:150055. doi: 10.1530/EDM-15-0055. Epub 2015 Sep 3.
Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, has been rarely seen and is characterized by the accumulation of foamy CD68+CD1a- histiocytes. We reported a case of ECD and reviewed the clinical features of 13 cases of ECD reported so far in China. A 53-year-old male was diagnosed with central diabetes insipidus in March 2014, followed by fever, splenomegaly and anemia in July 2014. His initial pituitary magnetic resonance imaging (MRI) revealed the absence of high signal at T1-weighted image in posterior pituitary without any lesion. A further positron emission tomography/computer tomography (PET/CT) images showed elevated metabolic activity of (18)F-2-fluro-D-deoxy-glucose (FDG) and low (13)N-NH3 uptake in the posterior pituitary, and multi-organ involvement. Biopsy at right femur lesion revealed that granulomatous infiltration of foamy histiocytes and Touton giant cells surrounded by fibrosis tissues. Immunohistochemistry stain was positive for CD68, negative for CD207/Langerin and S-100. The diagnosis of ECD was confirmed and the treatment with pegylated interferon was effective. ECD was a possible immune-related disorder concluding from the IgG4 immunohistochemistry results. We summarized the pathological manifestations for ECD and its differential diagnosis from Langerhans cell histiocytosis (LCH) and Rosai-Dorfman disease (RDD). ECD should be considered by both pathologists and clinicians in the differential diagnosis when central diabetes insipidus is accompanied with multi-organ involvement, especially skeletal system involvement, or recurrent fever.
ECD should be considered when central diabetes insipidus is accompanied with multisystem involvement, especially symmetric/asymmetric bone lesions, or recurrent fever.PET/CT scanning was helpful for locating pituitary lesion, discovering multiple system involvement and indicating the biopsy sites.Conducting proper immunohistochemistry stains was important for diagnosing ECD. ECD might be correlated with immune disorder.
Erdheim-Chester病（ECD）是系统性非朗格汉斯细胞组织细胞增多症的一种类型，较为罕见，其特征为泡沫状CD68+CD1a-组织细胞的积聚。我们报告了1例ECD病例，并回顾了中国迄今报道的13例ECD的临床特征。一名53岁男性于2014年3月被诊断为中枢性尿崩症，随后在2014年7月出现发热、脾肿大和贫血。其最初的垂体磁共振成像（MRI）显示垂体后叶T1加权像无高信号，无任何病变。进一步的正电子发射断层扫描/计算机断层扫描（PET/CT）图像显示垂体后叶（18）F-2-氟-D-脱氧葡萄糖（FDG）代谢活性升高，（13）N-NH3摄取降低，且有多器官受累。右股骨病变活检显示泡沫状组织细胞和Touton巨细胞肉芽肿性浸润，周围有纤维化组织。免疫组织化学染色CD68阳性，CD207/朗格汉斯蛋白和S-100阴性。ECD诊断得以证实，聚乙二醇干扰素治疗有效。从IgG4免疫组织化学结果推断，ECD可能是一种免疫相关疾病。我们总结了ECD的病理表现及其与朗格汉斯细胞组织细胞增多症（LCH）和罗萨伊-多夫曼病（RDD）的鉴别诊断。当中枢性尿崩症伴有多器官受累，尤其是骨骼系统受累或反复发热时，病理学家和临床医生在鉴别诊断中均应考虑ECD。
当中枢性尿崩症伴有多系统受累，尤其是对称/不对称骨病变或反复发热时，应考虑ECD。PET/CT扫描有助于定位垂体病变、发现多系统受累并指示活检部位。进行适当的免疫组织化学染色对诊断ECD很重要。ECD可能与免疫紊乱相关。
