Riso Vittorio, Nicoletti Tommaso Filippo, Rossi Salvatore, Vita Maria Gabriella, Alessia Perna, Di Natale Daniele, Silvestri Gabriella
Department of Neuroscience, Neurology Section, Università Cattolica del Sacro Cuore, 20123 Rome, Italy.
Dipartimento di Neuroscienze, UOC Neurologia, Ospedale Belcolle, 01100 Viterbo, Italy.
Brain Sci. 2022 Dec 22;13(1):26. doi: 10.3390/brainsci13010026.
Neurological involvement is relatively common in Erdheim-Chester disease (ECD), a rare clonal disorder of histiocytic myeloid precursors characterized by multisystem involvement. In ECD patients, neurological symptoms can occur either at onset or during the disease course and may lead to various degrees of neurological disability or affect patients' life expectancy. The clinical neurological presentation of ECD often consists of cerebellar symptoms, showing either a subacute or progressive course. In this latter case, patients manifest with a slowly progressive cerebellar ataxia, variably associated with other non-specific neurological signs, infratentorial leukoencephalopathy, and cerebellar atrophy, possibly mimicking either adult-onset degenerative or immune-mediated ataxia. In such cases, diagnosis of ECD may be particularly challenging, yet some peculiar features are helpful to address it. Here, we retrospectively describe four novel ECD patients, all manifesting cerebellar symptoms at onset. In two cases, slow disease progression and associated brain MRI features simulated a degenerative cerebellar ataxia. Three patients received a definite diagnosis of histiocytosis, whereas one case lacked histology confirmation, although clinical diagnostic features were strongly suggestive. Our findings regarding existing literature data focused on neurological ECD will be also discussed to highlight those diagnostic clues helpful to address diagnosis.
神经系统受累在 Erdheim-Chester 病（ECD）中相对常见，ECD 是一种罕见的组织细胞性髓系前体细胞克隆性疾病，其特征为多系统受累。在 ECD 患者中，神经系统症状可在疾病发作时或病程中出现，并可能导致不同程度的神经功能残疾或影响患者的预期寿命。ECD 的临床神经学表现通常包括小脑症状，呈亚急性或进行性病程。在后一种情况下，患者表现为缓慢进展的小脑共济失调，可伴有其他非特异性神经体征、幕下白质脑病和小脑萎缩，可能类似于成人起病的退行性或免疫介导性共济失调。在这种情况下，ECD 的诊断可能特别具有挑战性，但一些特殊特征有助于进行诊断。在此，我们回顾性描述了 4 例新发的 ECD 患者，均在起病时表现出小脑症状。在 2 例患者中，疾病进展缓慢及相关的脑部 MRI 特征模拟了退行性小脑共济失调。3 例患者得到了组织细胞增多症的确切诊断，而 1 例患者虽缺乏组织学证实，但临床诊断特征强烈提示该病。我们还将讨论关于神经系统 ECD 的现有文献数据的研究结果，以突出那些有助于诊断的线索。
