成人型伴脑内钙化、囊性变的白质脑病:附5例临床病理报告及文献复习

Adult-onset leukoencephalopathy with intracranial calcifications and cysts(ALCC):report of five cases and review of literature

目的探讨伴脑内钙化、囊性变的白质脑病(LCC)的临床表现及病理学特征。方法结合临床、影像、组织学特点及预后对解放军总医院第一医学中心病理科5例LCC患者的资料进行回顾性分析。结果病例中女2例,男3例;年龄最大者35岁,最小为18岁,平均年龄为26岁;3例脑内多发病变,2例为脑内单发病变,并有3例同伴脑内钙化;其中2例患者从发病到确诊年龄时长间隔分别为4年和10年不等,提示该病进展缓慢;临床症状方面,2例以肢体无力起病,1例为头晕头痛伴视物模糊,1例为理解力、视力及语言障碍,同伴有肢体的无力,1例为间断性失神发作伴发作性肢体抽搐;5例均出现囊性病变,部位分别发生在枕叶、额叶、丘脑、半卵圆中心、脑室旁、颞极及海马。镜下5例白质内均出现部分髓鞘脱失,2例镜下见明确囊壁样结构,4例小血管呈瘤样增生,伴1例出现血管壁钙化,个别血管内见血栓形成,同时见格子细胞、吞噬含铁血黄素的组织细胞及反应性胶质细胞增生,局部可见淋巴套袖形成,2例未见钙化,1例未见Rosenthal纤维及嗜酸性颗粒小体。结论LCC是一组原因不明、影像上表现脑白质内多发钙化、囊性变及结节性增强的少见疾病。目前病理解剖学发现及病程经过提示该病为一持续的、弥漫的脑微血管病变导致的微囊变,以及微囊改变所致的脑组织变性病变过程。该病缓慢进展,但预后较差,同时由于临床对其认识尚不足,多易误诊为肿瘤、感染及寄生虫等病,但根据影像、组织学特征并进行相应的免疫组化检测有助于鉴别诊断,准确诊断对治疗及预后具有重要意义。

Objective To investigate the clinical manifestations and pathological characteristics of leukoencephalopathy with intracranial calcifications and cysts(LCC).Methods A total of 5 cases of LCC were diagnosed by the clinical,imaging,histological characteristics and prognosis from the Department of Pathology,the First Medical Center of PLA General Hospital with review of the relevant literature.Results The 5 cases included 2 females and 3 males,with a mean age of 26 years.The multiple brain lesions were found in 3 cases,single brain lesions in 2 cases with calcification.From the onset to the confirmed diagnosis,2 cases had an interval of 4 years and 10 years respectively,suggesting that the LCC progressed slowly.The limb weakness was found in 2 cases,headache,dizziness with blurred vision in 1 case,comprehension,vision and language disorders with limb weakness in 1 case,intermittent delirium and paroxysmal limb spasm in 1 case.5 cases with cystic lesions occurred in the occipital lobe,frontal lobe,and thalamus,semi-oval center,paraventricular,temporal pole and hippocampus.Under microscope,partial demyelination in white matter was found in 5 cases,cystoid structure in 2 cases,angiomatous vessels in 4 cases,vascular calcification in 1 cases with thrombogenesis.We also observed plaid cells,deposits of hemosiderin and gliosis,lymph cuff formation.No calcification was found in 2 cases.Rosenthal fibers and eosinophils were not found in 1 case.Conclusion LCC is an uncommon entity characterized by multiple calcifications in the white matter of the brain,parenchymal cycts and enhanced nodularity.The current pathological findings and course of disease suggest that the disease is a continuous,microcapsule changes caused by persistent and diffuse cerebral microvascular disease,and degeneration of brain tissue caused by microcapsule changes.The disease progresses slowly,but the prognosis is poor.Due to insufficient clinical knowledge,it is often misdiagnosed as tumors,infections,and parasites.LCC is usually final diagnosis by histopathological and immunohistochemical features.The accurate diagnosis plays an important role in patient’s therapy and prognosis.