Poehling G G, Adair D M, Haupt H A
Clin Orthop Relat Res. 1984 May(185):241-4.
In a 57-year-old woman dizziness, staggering, altered mental status, and bilateral pain and cramping in the lower extremities developed. Extensive investigation yielded evidence of renal and long-bone lesions, with the latter being primarily metaphyseal and diaphyseal. Needle biopsy of the tibial marrow revealed the presence of lipid-laden histiocytes, osteosclerosis, and osteoclasts. A diagnosis of Erdheim-Chester disease was made; this is the 16th known case of the disease. The patient responded well to steroid therapy but later was readmitted and ultimately died of extensive infiltrates in the kidneys and pancreas. Erdheim-Chester disease, an extremely rare multisystem histiocytic disorder, has been characterized as a lipid (cholesterol) granulomatosis. Renal, cardiac, and pulmonary involvement are noted in most cases; the roentgenographic signs of skeletal involvement, when present, are pathognomonic.
一名57岁女性出现头晕、蹒跚、精神状态改变以及双下肢疼痛和痉挛。广泛检查发现有肾脏和长骨病变的证据，后者主要位于干骺端和骨干。胫骨骨髓穿刺活检显示存在充满脂质的组织细胞、骨硬化和破骨细胞。诊断为厄尔海姆-切斯特病；这是该疾病已知的第16例病例。患者对类固醇治疗反应良好，但后来再次入院，最终死于肾脏和胰腺的广泛浸润。厄尔海姆-切斯特病是一种极其罕见的多系统组织细胞疾病，被描述为脂质（胆固醇）肉芽肿病。大多数病例中可见肾脏、心脏和肺部受累；骨骼受累的X线征象若存在则具有诊断意义。
