Extensive white-matter changes in case of adult polyglucosan body disease

Extensive white matter signal changes were observed on T2-weighted images of a 49-year-old man. He presented with a slowly progressive gait disorder, and finally developed severe dementia. Extensive metabolic and infectious investigations failed to disclose the underlying cause during life. Autopsy revealed adult polyglucosan body disease. We discuss MRI findings likely to permit this diagnosis if combined with clinical findings and nerve or skin biopsy. Received: 14 July 2000 Accepted: 5 September 2000     

Marchiafava-Bignami disease with widespread extracallosal lesions and favourable course

We report a 61-year-old alcoholic man who presented with subacute physical deterioration and severe dysarthria. MRI, suggestive of corpus callosum demyelination with associated white matter involvement in both cerebral hemispheres, indicated the diagnosis of Marchiafava-Bignami disease. During his stay in hospital the patient showed remarkable improvement, and was discharged 22 days after admission. On MRI 2 months later, the extracallosal lesions had disappeared. This case raises questions about some previous ideas on this disease, such as the prognosis of its acute forms and the significance of the extracallosal lesions seen on neuroimaging. Received: 9 March 1998 Accepted: 27 March 1998     

Magnetic resonance imaging assessment of brain maturation in preterm neonates with punctate white matter lesions

Introduction Early white matter (WM) injury affects brain maturation in preterm infants as revealed by diffusion tensor imaging and volumetric magnetic resonance (MR) imaging at term postmenstrual age (PMA). The aim of the study was to assess quantitatively brain maturation in preterm infants with and without milder forms of WM damage (punctate WM lesions, PWML) using conventional MRI. Methods Brain development was quantitatively assessed using a previously validated scoring system (total maturation score, TMS) which utilizes four parameters (progressive myelination and cortical infolding, progressive involution of glial cell migration bands and germinal matrix tissue). PWML were defined as foci of increased signal on T1-weighted images and decreased signal on T2-weighted images with no evidence of cystic degeneration. A group of 22 preterm infants with PWML at term PMA (PWML group) were compared with 22 matched controls with a normal MR appearance. Results The two groups were comparable concerning gestational age, birth weight and PMA. TMS was significantly lower in the PWML group than in the control group (mean TMS 12.44 ± 2.31 vs 14.00 ± 1.44; P = 0.011). Myelination (mean 2.76 ± 0.42 PWML group vs 3.32 ± 0.55 control group, P = 0.003) and cortical folding (3.64 ± 0.79 vs 4.09 ± 0.43, P = 0.027) appeared to be significantly delayed in babies with PWML. Conclusion Conventional MRI appears able to quantify morphological changes in brain maturation of preterm babies with PWML; delayed myelination and reduced cortical infolding seem to be the most significant aspects.     

Serial MR imaging in Creutzfeldt-Jakob disease

Summary Serial magnetic resonance (MR) imagings of two autopsied patients with Creutzfeldt-Jakob disease (CJD) are presented. Both patients showed a dramatic progression of brain atrophy. The initial MR imagings were, however, interpreted as normal except for localized mild cortical atrophy in one patient. When a normal MR image is obtained in a demented middle-aged or aged patient, CJD may still need to be ruled out: follow up MR imaging may be useful.     

Menkes' disease with a Dandy-Walker variant: case report

We report a boy with Menkes' disease in whom MRI revealed delayed myelination of the white matter, brain atrophy and tortuosity of the intracranial vessels. The characteristic MRI features of Menkes' disease were accompanied by a Dandy-Walker variant. Received: 5 July 2000/Accepted: 27 September 2000     

静息状态下帕金森病患者脑部功能连接的MR研究

目的 探讨帕金森病患者在静息状态下脑部功能连接情况.方法 选取9例Ⅱ～Ⅲ级原发性帕金森病患者及8名年龄分布相同的健康志愿者在静息状态下进行MR扫描,选择双侧苍白球作为种子点,分析其脑部功能连接情况,并采用两样本t检验与健康对照组相比较.结果 正常健康对照组中,双侧颞极、双侧海马、双侧丘脑、扣带回后部、右侧枕中区、右侧顶上回等部位存在着功能连接.帕金森病患者的双侧小脑半球、左侧海马、双侧颞上回、后扣带同、左侧额下回、左侧额中回、左侧中央前回、左侧顶下回、左侧顶上回等部位存在功能联系,与对照纽相比,帕金森病患者的双侧小脑、双侧颞叶、左侧额叶、左侧运动前区、左侧顶叶等部位存在着功能连接增强,双侧丘脑的功能连接减弱.结论静息状态下,帕金森病脑部存在着功能连接异常现象.     

Incidental high-intensity foci in white matter on T2-weighted magnetic resonance imaging

Summary The clinical significance of high-intensity foci in the white matter on magnetic resonance images of the brain was studied in 351 adults. The foci frequently occurred in the corona radiata and centrum semiovale. The frequency and extent of the foci were closely related to age and to a previous history of cerebrovascular disease. Patients without such a history but with risk factors for cerebrovascular disease tended to have these foci more frequently than those without risk factors.     

MRI in Cockayne syndrome type I

Summary MRI findings are reported from two patients with Cockayne syndrome (CS) type I, aged 11 and 37 years. Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient. MRI may support the diagnosis of CS in the appropriate clinical context. The view that CS is a dysmyelinating disorder is further substantiated.     

Unspecific white matter lesions: prevalence,number and distribution in cranial MRI

To establish data about prevalence, number and topography of unspecific white matter lesions as seen on MRI, the T2-weighted MRI scans of 83 patients with hyperintense focal white matter changes were reviewed. Patients with known inflammatory central nervous system disease were excluded. There was an approximately linear increase in prevalence and number of lesions with age. Prevalence ranged from 18% in the third decade to over 90% in those over 70 years. We found a close correlation with concomitant periventricular hyperintensity. However, rating of Virchow-Robin spaces did not correlate with the number of white matter lesions. Both hemispheres were involved nearly equally with a minimal non-significant right side preponderance. Lesions showed a strong predilection for the frontal and parietal paraventricular watershed areas. Offprint requests to: Erich Hofmann     

Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis

In children, several neurological disorders are characterised by spongiform leukoencephalopathy. MRI of the brain typically shows white matter swelling, but does not enable differentiation of the various underlying disorders. The aim of this article is optimisation of the diagnostic value of MRI in leukoencephalopathy accompanied by swelling. MRI-based inclusion criteria were met by 20 patients in our database. The images were analysed using a detailed scoring list. In 13 of the 20 patients the clinical diagnosis was known (11 definite and 2 probable diagnoses). Characteristic MRI abnormalities could be defined in these patients. Of the 7 patients without a diagnosis, 5 had identical MRI abnormalities: difuse hemisphere swelling and typical cysts in frontoparietal subcortical white matter and the tips of the temporal lobes. The clinical picture was also similar in these patients, suggesting a similar disease.     

颈髓白质纤维束磁共振扩散张量成像的初步研究

目的:利用磁共振弥散张量成像(DTI)研究正常成人颈髓的各向异性程度,探讨颈髓白质纤维束成像的可能性和应用价值。方法:使用单次激发自旋回波平面回波(SE-EPI)序列对14例MR检查正常的健康志愿者行颈髓弥散张量成像检查。重建FA图,在颈髓各节段分别测量FA值。利用日本东京大学Masutani开发的DTVⅡ和VolumeOne纤维束示踪成像软件进行白质纤维束成像。结果:颈髓平均FA值0.6583±0.0737,所有FA图上颈髓显示清晰,没有明显图像失真。白质纤维束成像三维显示颈髓大部分主要的纤维束。结论:DTI有效地显示颈髓白质纤维的各向异性特征及白质纤维束的分布和走向,对颈髓疾病的研究提供了新的方法。     

MRI of the brain and craniocervical junction in Morquio's disease

We reviewed MRI of the brain and cervical spine in 11 patients with Morquio's disease. No abnormality was seen in the brain. The odontoid peg was abnormal in all patients, with varying degrees of cord compression due to an anterior soft tissue mass and indentation by the posterior arch of the atlas. The degree of cord compression was more marked than suggested by the symptoms and signs. We recommend MRI of the cervical spine in children with Morquio's disease before the development of neurological symptoms, to optimise the timing and type of surgical intervention. Received: 6 July 1995 Accepted: 28 April 1996     

Neuropsychological correlates of brain atrophy in Huntington's disease: a magnetic resonance imaging study

Summary Magnetic resonance imaging and a comprehensive cognitive evaluation were carried out in a series of 29 patients with mild to moderate Huntington's disease (HD). A factor analysis of the neuropsychological test scores provided three factors: a memory/speed-of-processing factor, a frontal factor, and a response inhibition factor. The memory/speed factor correlated significantly with measures of caudate atrophy, frontal atrophy, and atrophy of the left (but not the right) sylvian cistern. There were no significant correlations between the frontal or response inhibition factors and measures of cortical or subcortical brain atrophy. Our findings confirm that subcortical atrophy is significantly correlated with specific cognitive deficits in HD, and demonstrate that cortical atrophy also has important association with the cognitive deficits of patients with HD.     

血管性痴呆的脑白质异常信号MR临床分析

目的：对血管性痴呆患者MR图像上的脑白质异常信号（WMH）进行体积定量测量的临床分析,并与无痴呆的脑血管病患者进行比较。方法：对18例临床诊断为血管性痴呆的患者和15例脑血管病对照患者间隔一年先后进行两次头颅MPd检查。采用自行设计的自动体积测量软件测量每位患者的初始WMH体积以及随访结束时的WMH体积变化,然后采用独立样本t检验对血管性痴呆组和对照组的初始WMH体积和咖体积变化进行比较。结果：血管性痴呆组初始WNtt体积为28269±28124n玳13,WMH体积变化为4374±4242mm3。对照组的初始WNH体积为11865±10052mm^3,WMH体积变化为1913±2574mm3。两组之间的初始WMH体积差异具有统计学意义（t=2．304,P=0．031）,而WMH体积变化则表现出有统计学意义差异的趋势（t=1．963,P=0．059）。结论：血管性痴呆患者比普通的脑血管病患者存在更加严重的白质病变,并且进展加快。WMH的增加可能认知功能的下降有关。     

Whole-brain voxel-based morphometry of white matter in medial temporal lobe epilepsy

PURPOSE: The purpose of this study was to analyze whole-brain white matter changes in medial temporal lobe epilepsy (MTLE). MATERIALS AND METHODS: We studied 23 patients with MTLE and 13 age- and sex-matched healthy control subjects using voxel-based morphometry (VBM) on T1-weighted 3D datasets. The seizure focus was right sided in 11 patients and left sided in 12. The data were collected on a 1.5 T MR system and analyzed by SPM 99 to generate white matter density maps. RESULTS: Voxel-based morphometry revealed diffusively reduced white matter in MTLE prominently including bilateral frontal lobes, bilateral temporal lobes and corpus callosum. White matter reduction was also found in the bilateral cerebellar hemispheres in the left MTLE group. CONCLUSION: VBM is a simple and automated approach that is able to identify diffuse whole-brain white matter reduction in MTLE.     

MRI in acute neuropathic Gaucher's disease

We present the cranial MRI findings in a 6-month-old girl with biopsy-proven acute neuropathic Gaucher's disease, which include unilateral cerebral atrophy and dural thickening with contrast enhancement. Received: 4 March 1999/Accepted: 18 March 1999     

MRI at 3 Tesla detects no evidence for ischemic brain damage in intensively treated patients with homozygous familial hypercholesterolemia

Introduction Homozygous familial hypercholesterolemia (FH) is considered a model disease for excessive plasma cholesterol levels. Patients with untreated homozygous FH have a markedly increased risk for premature atherosclerosis. The frequency and extent of ischemic brain damage detectable by high-field magnetic resonance imaging (MRI) after long-term intensive treatment are unknown. Methods In a case control study, five patients with homozygous FH (one male and four females; mean age: 23.6 ± 9.2, range: 12–36 years; mean pre-treatment serum total cholesterol level: 26.9 ± 3.24 mmol/L; all patients with documented atherosclerotic plaques in the carotid arteries) and five age- and sex-matched healthy controls were studied. All patients had been on maximal lipid-lowering medication since early childhood, and four of them were also on treatment with low-density lipoprotein (LDL) apheresis at bi-weekly intervals. Brain MRI was performed at 3 Tesla field strength with fluid-attenuated T2-weighted inversion recovery and T1-weighted spin-echo MR pulse sequences and subsequently evaluated by two independent readers. Results The maximal lipid-lowering treatment reduced the total serum cholesterol by more than 50% in the patients, but their serum concentrations were still 3.6-fold higher than those found in the controls (11.9 ± 4.2 vs. 4.5 ± 0.5 mmol/L;  p < 0.0047). No brain abnormality was observed in any of the patients with homozygous FH. Conclusion Homozygous FH patients on intensive cholesterol-lowering therapy have no evidence of ischemic brain damage at 3 Tesla MRI despite the remaining high cholesterol levels.     

The occipital white matter lesions in Alzheimer's disease patients with visual hallucinations

PURPOSE: Investigators have suggested that lesions responsible for visual hallucinations (VHs) are situated in the visual association cortex. The aim of this study was to assess the relationship between occipital white matter lesions and VHs in Alzheimer's disease (AD) patients. METHODS: AD patients with a history of VHs (AD+VH) and those without (AD-VH) were retrospectively studied. The two groups of patients were matched by sex and mental state. All subjects underwent brain magnetic resonance image (MRI) scans. The periventricular hyperintensities (PVHs) and deep white matter hyperintensities (DWHs) on MRIs were rated by two raters using a semiquantitative scoring method (0=absent; 6=confluent). RESULTS: Five AD+VH patients and five AD-VH patients were enrolled into this study. The occipital PVH score was higher in the AD+VH patients than in the AD-VH patients. The occipital DWH score was zero in both groups. CONCLUSION: The presence of VHs in AD was associated with increased occipital PVHs and an absence of occipital DWHs on brain MRIs, implying that structural lesions in the geniculocalcarine region and preserved subcortical connections with visual association areas are involved in the genesis of VHs in AD.     

Fast FLAIR MRI in childhood white-matter abnormalities

We compared a fast fluid-attenuated inversion recovery (FLAIR) pulse sequence with a dual-echo short tau fast inversion-recovery (DESTTIR) sequence in 20 children with white matter abnormalities. Although the overall image quality of DESTTIR images was better, the lesion-to-background contrast was significantly higher with the fast FLAIR pulse sequence and lesion detection was more accurate. Received: 20 June 1997 Accepted: 1 October 1997