Grois N, Barkovich A J, Rosenau W, Ablin A R
Department of Pediatric, University of California, School of Medicine, San Francisco 94143.
Am J Pediatr Hematol Oncol. 1993 May;15(2):245-54. doi: 10.1097/00043426-199305000-00014.
To study the pathogenesis of central nervous system (CNS) lesions in Langerhans' cell histiocytosis (LCH), discuss their differential diagnosis and suggest guidelines for their management.
Central nervous system (CNS) disease with Langerhans' cell histiocytosis (LCH) is a poorly understood disorder. Most commonly, the hypothalamic-pituitary region is involved, leading to diabetes insipidus (DI) or other endocrinopathies. We report four patients in whom lesions in the pons, cerebellum, basal ganglia, cerebral white matter, or optic nerve and tract were demonstrated by magnetic resonance imaging (MRI).
Three developed a progressive neurological disorder with cerebellar and pontine symptoms leading to severe disability--in one patient to blindness and death--in spite of various treatment approaches. In the fourth patient, who had MRI examinations to evaluate long-standing DI, CNS lesions were detected in the absence of neurological symptoms. There was no correlation between activity of LCH, severity and course of the CNS disease, or morphology of the lesions on MRI. Brain biopsy was performed in the three symptomatic patients and revealed cerebellar atrophy in one. Normal brain tissue was obtained from two patients. In none of the patients could autoantibodies to nervous system tissue be detected in serum or cerebrospinal fluid.
Based on clinical, pathological, and MRI findings in our four patients and on information in the literature, we conclude that the CNS disease associated with LCH, although insufficiently understood, is likely to be a manifestation of histiocytosis in the brain, and we propose guidelines for the management of patients with this disorder.
研究朗格汉斯细胞组织细胞增多症（LCH）中枢神经系统（CNS）病变的发病机制，讨论其鉴别诊断，并提出治疗指南。
朗格汉斯细胞组织细胞增多症（LCH）合并中枢神经系统（CNS）疾病是一种了解甚少的病症。最常见的是下丘脑 - 垂体区域受累，导致尿崩症（DI）或其他内分泌病。我们报告了4例患者，其脑桥、小脑、基底节、脑白质或视神经及视束的病变通过磁共振成像（MRI）得以证实。
3例患者出现进行性神经功能障碍，伴有小脑和脑桥症状，导致严重残疾，其中1例患者失明并死亡，尽管采用了各种治疗方法。第4例患者因评估长期尿崩症而进行MRI检查，在无神经症状的情况下检测到中枢神经系统病变。LCH的活动度、中枢神经系统疾病的严重程度和病程或MRI上病变的形态之间均无相关性。对3例有症状的患者进行了脑活检，其中1例显示小脑萎缩。2例患者获得正常脑组织。所有患者的血清或脑脊液中均未检测到针对神经组织的自身抗体。
基于我们4例患者的临床、病理和MRI表现以及文献资料，我们得出结论，与LCH相关的中枢神经系统疾病虽然了解不足，但可能是脑组织细胞增多症的一种表现，我们为此类疾病患者提出了治疗指南。
