婴儿晚期型异染性脑白质营养不良一例报告

异染性脑白质营养不良是一种常染色体隐性遗传性溶酶体贮积病，致病基因(ARSA)定位于22q13.3，ARSA突变导致芳基硫酸酯酶A(ASA)活性下降，其作用底物硫酸脑苷脂大量堆积，出现中枢和周围神经系统的脱髓鞘改变。依据起病年龄，异染性脑白质营养不良分为婴儿晚期型、青少年型和成年型．我们报道一例以周围神经损害为主要表现的婴儿晚期型异染性脑白质营养不良。     

异染性脑白质营养不良沉积物电镜及组织化学检查

本文对一例经临床及实验室酶学诊断的晚期婴儿型异染性脑白质营养不良（MLD）进行脑及肾组织的超微结构及组织化学检查。电交易下发现胞浆内涵物，作了形态的描述并阐述其形成机制。组织化学显示胞浆内大量异染性颗粒符合本病的诊断。     

中国异染性脑白质营养不良携带者筛查临床实践指南《中国异染性脑白质营养不良携带者筛查的临床实践指南》制订组

异染性脑白质营养不良（MLD）是一种常染色体隐性遗传疾病,表现为进行性加重的运动、感觉、认知等障碍,致残致死率高,目前尚无有效治疗。因此,开展孕前及孕早期夫妇携带者筛查,降低患儿出生率是防控关键。该临床实践指南目的在于发现携带MLD突变基因的高风险人群,及早为其提供减少生育风险的遗传咨询,促进MLD的规范化防控。国际神经病学神经外科学杂志, 2024, 51(2): 13-17]     

磁共振成像对肾上腺脑白质营养不良的诊断价值

报告４例肾上腺脑白质营养不良（ＡＬＤ）患者的磁共振成像（ＭＲＩ）表现。ＭＲＩ表现为双侧对称的白质异常信号，主要位于枕、顶、颞叶，视放射和胼胝体压部，Ｔ１加权为低信号，Ｔ２加权为高信号，有增强效应。多维成像和高对比强度使ＭＲＩ比ＣＴ有更强的敏感性，能明确病变的部位及其严重程度，故ＭＲＩ是诊断ＡＬＤ的有效手段。     

异染性脑白质营养不良1例报告及文献复习

脑白质营养不良是指中枢神经系统正常髓鞘生长受累所致疾病,该类疾病应只包括那些由遗传决定的脑白质病.异染性脑白质营养不良(metachromatic leukodystrophy,MLD)为脑白质营养不良中的较常见类型.此病又称异染性白质脑病.是一种严重的神经退化性代谢病,系常染色体隐性遗传性疾病,MLD是由于硫酸脑苷脂及其他含硫酸的糖脂不能脱硫酸,而沉积在全身组织的溶酶体中,主要在中枢及周围神经系统中,其次有肾、胆囊、肝等.最终导致神经系统脱髓鞘而形成的进展性、退化性神经系统疾病.MLD是一种并不很少见的遗传代谢性疾病,在临床工作中需加强对此病的认识,本文的报道以期达到此目的,尽可能减少误诊.     

DT-MRI动态观察无先兆偏头痛患者治疗前后脑白质结构完整性的改变

目的 研究无先兆偏头痛患者脑白质可能存在的微细结构异常,并探讨其在药物治疗前后的动态变化. 方法 选择自2010年7月1日至2011年6月30日在广州医学院第二附属医院神经内科门诊连续就诊的无先兆偏头痛患者(病例组)及年龄、性别相匹配的同期健康体检者(对照组)各32例,于药物治疗前及治疗第6个月、治疗第12个月后进行磁共振弥散张量成像(DT-MRI)检查,分别于胼胝体膝部、体部及压部最厚的部位设置感兴趣区,测取部分各向异性值(FA值)和表观弥散系数值(ADC值). 结果 (1)治疗前,病例组胼胝体膝部、体部及压部FA值均较对照组明显更低,差异有统计学意义(P＜0.05);治疗第6个月后,胼胝体膝部、体部FA值较治疗前明显升高,差异有统计学意义(P＜0.05);治疗第12个月后,胼胝体膝部、体部及压部FA值较治疗前及治疗第6个月均明显升高,差异有统计学意义(P＜0.05).(2)病例组治疗前后各时间点胼胝体膝部、体部及压部ADC值与对照组比较差异均无统计学意义(P＞0.05).(3)治疗前,病例组病程与胼胝体膝部、体部及压部FA值均呈明显负相关(r=-0.850,P=0.000;r=-0.856,P=0.000;r=-0.430,P=0.014);治疗第6个月后,病例组月均头痛次数与胼胝体膝部、体部及压部FA值均呈明显负相关(r=-0.824,P=0.000; r=-0.792,P=0.000;r=-0.425,P=0.015);治疗第12个月后,病例组月均头痛次数与胼胝体膝部、体部FA值均呈明显负相关(r=-0.452,P=0.009;r=-0.440,P=0.012). 结论 无先兆偏头痛患者存在胼胝体神经纤维微细结构完整性的损害,经有效治疗后此种损害是可逆的.DT-MRI可动态观察无先兆偏头痛患者胼胝体神经纤维微细结构完整性的改变,值得临床推广应用.     

成人起病且以脑干损害为主的X连锁肾上腺脑白质营养不良1例

X连锁肾上腺脑白质营养不良(X-ALD)是最常见的过氧化物酶体疾病。成人起病、以脑干损害为主要表现者为该病的罕见表型。现报道1例于2021年4月12日就诊于天津市环湖医院、成人起病且以脑干损害为主的青年男性X-ALD患者, 总结其临床资料及诊治过程。该患者主要表现为进行性加重的行走困难、构音障碍、共济失调, 经基因检测显示其ABCD1基因存在半合子突变位点, 结合辅助检查符合X-ALD的临床诊断。文中还总结了已报道的脑干损害为主的X-ALD患者临床特征、影像学及遗传学特点, 以提高对该疾病临床表型的认识。     

CT and MRI in late-onset metachromatic leukodystrophy

A 23-year-old patient suffering from mental deterioration was referred for CT study following her first epileptic fit. The study disclosed generalized atrophy and diffuse symmetric white matter hypodensities. Similar findings were found in her 13-year-old retarded sister. The diagnosis of metachromatic leukodystrophy (MLD) was confirmed by the finding of low arylsulfatase A (ASA) levels in cultured fibroblasts in both sisters. MRI study revealed widespread high intensity signals of T2 nature in the periventricular regions indicating changes in white matter composition.     

Pattern and significance of white matter abnormalities in myotonic dystrophy type 1: an MRI study

We reviewed the brain MRI of 66 patients with the adult form of myotonic dystrophy type 1 (DM1) to evaluate the extent and significance of white matter involvement and to look for a pattern of MRI abnormalities suggestive of DM1. White matter lesions (WMLs) and large Virchow Robin spaces (VRSs) were rated by semiquantitative methods and the signal intensity of white matter superior and posterior to the trigones (WMPST) by reference to standard images. Disease duration was correlated positively with WML and negatively with VRS scores. Patients were divided into four groups according to increasing severity of WMPST involvement: group A with mild WMPST hyperintensity, group B with large VRSs and mild or moderate WMPST hyperintensity, group C with moderate WMPST hyperintensity or mild WMPST hyperintensity with small WMLs, group D with severe WMPST hyperintensity or moderate WMPST hyperintensity with small WMLs. Disease duration, muscular impairment, lobar WMLs and brain atrophy significantly increased from groups A and B (not significantly different) to C and from C to D, while convexity VRSs significantly decreased from group B to C and from C to D. Lobar white matter involvement in DM1 seems progressive during the disease and may be characterized initially by large VRSs or mild WMPST hyperintensity, then by small WMLs or moderate WMPST hyperintensity, and finally by more extensive and confluent WMLs or diffuse white matter hyperintensity and by brain atrophy. Received: 2 May 2001, Received in revised form: 19 February 2002, Accepted: 22 February 2002     

Proton magnetic resonance spectroscopy in brain white matter disorders

The advent of magnetic resonance imaging (MRI) has revolutionized the clinical approach to the evaluation of brain white matter disorders and has contributed significantly to expansion of the concept of these diseases. MRI is very sensitive at detecting white matter lesions, but conventional T1 and T2-weighted images do not provide specific pathological information about the lesions, and correlation between MRI lesion load and clinical disability is often weak. Proton magnetic resonance spectroscopy can provide chemical-pathological information of a given tissue invivo. The use of this MR technique in brain white matter disorders has shown to improve diagnostic classification and to provide surrogate measures useful for monitoring disease evolution and response to therapeutic intervention.The study was supported in part by grants from the Multiple Sclerosis Society of Canada and from the Progetto Sclerosi Multipla of the Istituto Superiore di Sanità, Rome, Italy.     

Evaluation of subcortical white matter and deep white matter tracts in malformations of cortical development

AIMS: Abnormal cortical development will lead to abnormal axons in white matter. The purpose was to investigate (1) the microstructural changes in subcortical white matter adjacent to malformations of cortical development (MCD) and (2) the deep white matter tracts using diffusion tensor imaging (DTI). METHODS: Thirteen children with a variety of MCD were recruited. The fractional anisotropy (FA), trace, and eigenvalues (lambdamajor, lambdamedium, lambdaminor) of subcortical white matter of MCD were compared with contralateral normal side. The deep white matter tracts were graded based on the size, color hues and displacement of the tracts as visualized on color vector maps and tractography; grade 1 was normal tract size and color hue, grade 2 was reduced tract size but preserved color hue and grade 3 was loss of color hue or failure of tracking on tractography. RESULTS: The subcortical white matter adjacent to abnormal cortex demonstrated reduced FA (p < 0.05) and tendency to increase trace (p = 0.06). There was a significant elevation in lambdamedium and lambdaminor (p < 0.05), but no significant change in lambdamajor (p > 0.05). Twelve cases demonstrated alteration in white matter tracts. Seven cases of focal cortical dysplasia and two cases of transmantle MCD demonstrated grade 3 pattern of white matter tract. CONCLUSION: Reduced FA is a sensitive but nonspecific marker of alteration in microstructure of white matter. The elevated lambdamedium and lambdaminor may reflect a dominant effect of abnormal myelin. Alteration in white matter tracts was observed in most cases of MCD.     

Electron microscopic investigation of inclusion material in a case of adult metachromatic leukodystrophy; Observations on kidney biopsy,peripheral nerve and cerebral white matter

Summary The fine structural characteristics of storage products in peripheral nerve, kidney and cerebral white matter, from a case of adult metachromatic leukodystrophy are described. There were pronounced differences from the fine structural aspects in late infantile cases. A large proportion of the inclusions did not exhibit a unit membrane. An hypothesis is proposed to clarify the delayed manifestation of this type of metachromatic leukodystrophy until adulthood.     

White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI

Mucopolysaccharidosis (MPS) type I (alpha-iduronidase deficiency) is characterized by storage and massive urinary excretion of dermatan sulfate and heparan sulfate; it may be distinguished into three different subtypes based on age at onset and severity of the clinical symptoms. We report on progressive white matter involvement documented by serial MR imaging in a patient with the MPS type I, severe skeletal involvement and preserved mental capabilities (intermediate phenotype or Hurler/Scheie syndrome).The natural history of white matter abnormalities in patients with MPS is still unclear; based on the present study, it appears that degenerative changes of the white matter mimicking a leukodystrophy may mark the course of MPS type I. We also suggest that the degree of MR changes in patients with MPS does not always reflect their neurological impairment.     

Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo

The brain morphology and chemistry of seven children with late infantile (4/7) and juvenile (3/7) forms of metachromatic leukodystrophy (MLD) were investigated by magnetic resonance imaging (MRI) and localized proton magnetic resonance spectroscopy (MRS). Patients who were examined at least 6 months after the onset of symptoms (6/7) had severe leukodystrophic changes on MRI. Proton MRS revealed a marked reduction of the neuronal markerN-acetylaspartate in white and grey matter and elevated lactate in demyelinated areas. In contrast to other leukodystrophies MLD patients showed a generalized increase of brainmyo-inositol (2- to 3-fold in white matter), indicating a specific role in the pathophysiology of demyelination in MLD.     

扩散张量成像在周围神经病变的研究进展简

扩散张量成像是fMRI的重要组成部分,是目前唯一可在体显示白质纤维束的无创性检查方法。此外,还可通过测量各向同性和各向异性等参数,对白质纤维束的完整性进行评价。目前,已有研究将扩散张量成像技术应用于周围神经系统疾病,本文拟从急性周围神经损伤、慢性周围神经损伤,以及周围神经系统炎症和肿瘤等方面对其在周围神经系统疾病的研究进展进行概述。     

沃勒变性在中枢神经系统的MRI表现

目的 回顾沃勒变性及继发跨神经元退变的病理学改变,分析其在中枢神经系统的MRI表现。方法 根据沃勒变性的影像学标准,选择1995～1999年经MRI确诊的沃勒变性患者20例,年龄16～70岁,平均52岁。其中脑梗死11例,脑出血4例,创伤手术后2例,肿瘤术后1例,脑膜瘤1例,脑白质病1例。回顾性分析其MRI表现。结果 20例患者原发病灶均位于幕上,16例于原发病灶同侧出现条带样连续或不连续长T_1或等T_1、长T_2改变,位于皮质脊髓束通路。FLAIR及DWI扫描均显示高信号病灶。3例仅见原发灶同侧大脑脚萎缩,但未见异常信号。7例见局限性胼胝体萎缩,T_2加权像信号略显增高。2例患者出现交叉性小脑萎缩,示皮质脑桥小脑通路退变。结论 对中枢神经系统的沃勒变性和继发跨神经元退变描述的是分子水平的病理学变化,因变性是沿着已知的神经通路的、且存在特定信号改变,故MRI可在活体中对其进行观察和诊断。     

精神分裂症患者脑结构异常的MRI研究

目的　探讨脑结构的改变 (尤其是第Ⅲ脑室 )特点及其与精神分裂症症状产生及疗效的关系。方法　选用我院住院的首发精神分裂症患者 ,共 51例 ,正常对照组为 2 3例健康志愿者。对入组后的患者于治疗前和治疗后 2个月进行PANSS(阳性与阴性症状量表 )评定 ,以PANSS减分率作为疗效指标。磁共振成像扫描采用SiemensMagnetomP8型永磁性磁共振机 ,磁场强度 0 2T。测量包括第Ⅲ脑室横径等在内的 1 7条径线。结果　病例组第Ⅲ脑室横径、双侧外侧裂宽度明显增宽 ,胼胝体厚度明显减少 ,病例组与对照组之间存在显著差异。PANSS阴性分量表、思维解体因子减分率与左侧海马横径均呈负相关。PANSS其他分量表及因子减分率与MRI各参数均无显著相关。结论　精神分裂症患者存在的脑结构异常可能构成了精神分裂症的神经生物学基础。脑结构异常与疗效的关系有待进一步研究