Lauricella Eleonora, d'Amati Antonio, Ingravallo Giuseppe, Foresio Maurizio, Ribatti Domenico, de Tommaso Marina, Cives Mauro, Girolamo Francesco
Department of Biomedical Sciences and Human Oncology, Clinical Oncology Section, University of Bari School of Medicine, Bari, Italy.
Department of Emergency and Organ Transplantation (D.E.T.O.), Pathology Section, University of Bari School of Medicine, Bari, Italy.
Cerebellum Ataxias. 2021 Jan 6;8(1):3. doi: 10.1186/s40673-020-00125-x.
Erdheim-Chester disease (ECD), a rare disorder of monocyte/macrophage lineage, has been related to cerebellar dysfunction. To increase the awareness of this rare, protean disease, an unusual, myasthenia-like onset of ECD is reported.
A 42-year-old man presented with a 6-year history of mild evening fatigability in his four limbs followed by motor and cognitive symptoms associated with cerebellar atrophy, dentate nuclei and dentato-thalamic pathway degeneration. Magnetic resonance imaging revealed hyperintense signals in T2 and fluid-attenuated inversion recovery sequences within the pons, cerebellar white matter, dentate nuclei and globi pallidi in the absence of any contrast enhancement. Whole-body bone scintigraphy with Technetium - methylene diphosphonate and fluorodeoxyglucose-positron emission tomography both revealed symmetric uptake in the lower extremities a finding suggestive of a diagnosis of ECD. Histological examination revealed diffuse infiltration of CD 68 histiocytes with foamy cytoplasms in the presence of B-type of Rapidly Accelerated Fibrosarcoma protein kinase (BRAF) activating mutation in tumor cells.
In patients with myasthenia-like symptoms who test negatively for myasthenia gravis, neurodegenerative diseases, and disorders of the hypothalamus, a diagnosis of ECD should be taken into consideration.
厄尔海姆-切斯特病（ECD）是一种罕见的单核细胞/巨噬细胞系疾病，与小脑功能障碍有关。为提高对这种罕见的、具有多种表现形式疾病的认识，本文报告了一例不寻常的、类似重症肌无力起病的ECD病例。
一名42岁男性，有6年四肢轻度夜间疲劳史，随后出现与小脑萎缩、齿状核及齿状核-丘脑通路退变相关的运动和认知症状。磁共振成像显示脑桥、小脑白质、齿状核和苍白球在T2加权像和液体衰减反转恢复序列中有高信号，且无任何强化表现。全身骨闪烁显像（使用锝-亚甲基二膦酸盐）和氟脱氧葡萄糖正电子发射断层显像均显示双下肢对称摄取，这一发现提示ECD诊断。组织学检查显示CD68组织细胞弥漫浸润，细胞质呈泡沫状，肿瘤细胞存在B型快速进展性纤维肉瘤蛋白激酶（BRAF）激活突变。
对于重症肌无力、神经退行性疾病和下丘脑疾病检测呈阴性但有类似重症肌无力症状的患者，应考虑ECD诊断。
