T2 relaxometry of brain in myotonic dystrophy

We investigated the nature and extent of brain involvement in myotonic dystrophy (DM), examining possible T2 relaxation abnormalities in the brain of 20 patients with adult-onset DM and 20 sex- and age-matched normal controls. Brain MRI was performed at 0.5 T, and T2 values were calculated from signal intensity in two echoes. Regions of interest included: frontal, parietal, temporal, occipital and callosal (rostral and splenial) normal-appearing white matter; frontal, occipital, insular and hippocampal cortex; caudate nucleus, putamen, globus pallidus and thalamus. All white-matter and occipital and right frontal cortex regions showed a significantly longer T2 in the patients. Multiple regression analysis, including grey- and white-matter T2 as dependent variables, plus age at onset and at imaging, disease duration, muscular disability, brain atrophy and CTG trinucleotide repeats as independent variables, revealed that only white-matter T2 elongation and disease duration correlated positively. White-matter involvement in DM is more extensive than previously reported by MRI and neuropathological studies and seems to be progressive in the course of disease. Received: 31 May 2000 Accepted: 27 July 2000     

MR spectroscopy detection of lactate and lipid signals in the brains of healthy elderly people

Magnetic resonance spectroscopy was used to assess the presence of brain lactate and lipid signals, frequently associated with the presence of pathology, in healthy persons of 60-90 years old (n = 540). Lactate and lipid signals were observed in, respectively, 25 and 6% of women, and 18 and 2% of men. Upon adjustment for age, and for MRI-detected cerebral atrophy and white matter lesions, the gender differences in lactate and lipid remained the same (p = 0.05 and p = 0.03, respectively). Brain lactate and lipid signals appear to be intrinsic to aging. However, the presence of these metabolites in very focal areas only, rather than in any distributed fashion within the brain (the latter generally the case with cerebral atrophy and white matter lesions), strongly suggests the existence of asymptomatic focal pathology not shown on MRI.     

MRI in subacute sclerosing panencephalitis

Subacute sclerosing panencephalitis (SSPE) is a progressive, slow virus infection of the brain, caused by the measles virus, attacking children and young adults. We investigated 15 patients with SSPE by MRI, with 5 normal and 10 pathological results. In the early period, lesions were in the grey matter and subcortical white matter. They were asymmetrical and had a predilection for the posterior parts of the hemispheres. Later, high-signal changes in deep white matter and severe cerebral atrophy were observed. Parenchymal lesions significantly correlated with the duration of disease. A significant relationship between MRI findings and clinical stage was observed in the 1st year of the disease. Received: 17 March 1995 Accepted: 23 October 1995     

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. MRI findings seven years later included extensive atrophy of the lower extremities, with severe progression, including the gluteal muscles, iliopsoas, rectus femoris, and obturator internus. There was also significant atrophy of the rectus abdominis and internal and external oblique muscles, and iliacus muscles. The MRI findings showed more proximal involvement of lower extremities and no atrophy of the tibialis anterior, making TOR1AIP1 the more likely genetic cause. Muscle biopsy findings supported TOR1AIP1 limb-girdle muscular dystrophy. Though rare, TOR1AIP1 gene mutation occurs in pediatric patients and MRI can aid in diagnosis and help differentiate from other types of muscular dystrophy. Genetic and pathology workup is also crucial to accurate diagnosis and possible treatment of these patients.     

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. MRI findings seven years later included extensive atrophy of the lower extremities, with severe progression, including the gluteal muscles, iliopsoas, rectus femoris, and obturator internus. There was also significant atrophy of the rectus abdominis and internal and external oblique muscles, and iliacus muscles. The MRI findings showed more proximal involvement of lower extremities and no atrophy of the tibialis anterior, making TOR1AIP1 the more likely genetic cause. Muscle biopsy findings supported TOR1AIP1 limb-girdle muscular dystrophy. Though rare, TOR1AIP1 gene mutation occurs in pediatric patients and MRI can aid in diagnosis and help differentiate from other types of muscular dystrophy. Genetic and pathology workup is also crucial to accurate diagnosis and possible treatment of these patients.     

佩梅病的头颅MRI表现及其与临床、基因分型的关系

目的 探讨佩梅病( PMD)患儿的头颅MRI特点,以及与临床及基因分型的关系.方法 回顾性分析16例经临床诊断为佩梅病患儿的临床和影像资料.患儿均为男性,年龄5个月至9岁8个月.由儿科神经医师对患儿的症状和体征进行检查,将其按照临床症状进行临床分型.由影像科医师对头颅MRI图像的特点进行分析,病灶的位置包括苍白球、锥体束、胼胝体、小脑白质、半卵圆中心,判断大、小脑是否萎缩、是否有“豹纹征”.结果 临床诊断经典型佩梅病8例,中间型7例,先天型1例.16例佩梅病患儿MRI均以广泛的脑白质髓鞘化延迟为特点,病灶累及苍白球13例、锥体束7例、胼胝体11例、小脑白质7例、半卵圆中心12例、脑萎缩5例、小脑萎缩1例,5例有“豹纹征”.锥体束和小脑白质受累在点突变患儿中多见;临床症状较重的中间型及先天型患儿出现小脑白质病变频率较高;“豹纹征”多见于经典型患儿,提示患儿的髓鞘化程度相对较高.结论 佩梅病患儿的头颅MRI具有典型的影像特点,其影像学表现与临床分型和基因突变类型有一定的相关性.     

CT and MR evaluation of intracranial involvement in pediatric HIV infection: a clinical-imaging correlation.

PURPOSE: To review the cranial CT and MR examinations of 29 children with perinatally transmitted HIV infection and correlate the imaging findings with clinical and pathologic data. METHODS: 28 children were examined with CT, four with MR. RESULTS: CT abnormalities were seen in 25 children studied (89%), including cerebral atrophy (25 children), basal ganglia calcification (10 children), periventricular frontal white matter calcification (four children), cerebellar calcification (one child), white matter low attenuation areas (two children), intracranial hemorrhage (three children) and cerebral infarction (one child). Intracranial calcifications were only seen in association with cerebral atrophy and were never seen prior to 1 year of age. Calcifications in the periventricular white matter or cerebellum were always associated with basal ganglia calcifications. MR abnormalities were seen in all four children studied; cerebral atrophy (four children), areas of high signal intensity in white matter (four children), loss of normal posterior pituitary high signal intensity (one child). Cerebral atrophy appeared to be a nonspecific finding that was seen in some children in the absence of neurologic signs and symptoms. All children with intracranial calcifications had developmental delay. Intracranial hemorrhage was seen in children with severe thrombocytopenia. Focal intracranial infections were unusual and neoplastic lesions were not found. CONCLUSIONS: Cerebral atrophy, basal ganglia calcifications, and focal white matter lesions were the most common abnormalities seen neuroradiologically in our series of HIV-infected children; cerebral atrophy was a nonspecific finding.     

脑裂头蚴病的CT和MRI诊断

目的:探讨脑裂头蚴病的CT和MRI表现。方法:回顾性分析5例脑裂头蚴病患者的CT和MRI表现,其中5例行MRI检查,3例同时行CT检查。结果:CT和MRI均能发现脑裂头蚴痛患者脑内多发病灶。主要CT表现为脑内多发不规则斑片状低密度影,边界模糊;可见散在宽点状钙化2例,局部脑萎缩2例;增强后病灶呈环状、结节状强化。MRI显示病灶多位于白质区,于T_1WI呈低信号,T_2WI呈高信号,边界模糊,占位效应不明显,增强后呈结节状、环状、串状或扭曲索条状强化,以矢状面或冠状面图像上显示最佳;出现脑萎缩3例;对CT所见钙化显示不佳。结论:CT和MRI能检出脑裂头蚴病患者的脑内多发病灶,并具有一定特征性表现。     

MRI of the brain in diabetes mellitus

We studied the MRI appearances of the brain in 159 patients with diabetes mellitus (DM) and 2566 agematched individuals without DM (controls). The images were reviewed for cerebral infarcts, hemorrhage, atrophy and subcortical arteriosclerotic encephalopathy. Cerebral atrophy was significantly more frequent in patients with DM than in controls (P>0.005) from the sixth to the eighth decade. The frequency of atrophy was 41.2% in the 6th decade, 60.0% in the 7th and 92.3% in the 8th decade in DM, and 19.8%, 38.9% and 56.8% respectively in controls. Unexpectedly, there was no statistically significant difference in the incidences of cerebrovascular diseases at any age.     

局限性脑皮层发育不良的影像与病理对比分析

目的 探讨局限性脑皮层发育不良(FCD)的影像改变,并与病理改变对比,以提高对FCD的认识.方法 回顾性分析28例经临床病理证实的FCD患者的临床及影像资料,所有患者均行MR检查,其中14例患者行PET检查,将影像改变与病理变化进行对比分析.结果 28例FCD中MRI显示病灶24例(85.7%),4例未显示明显异常,局限性脑皮层增厚及灰、白质界限不清是FCD的主要MR改变,同时脑皮层及皮层下白质可出现多种异常信号,其中皮层下白质内类三角形稍长T2信号指向侧脑室具有一定的特征性.14例行PET检查,其中9例(64.3%)显示病灶局部葡萄糖代谢活性减低.病理改变主要包括脑皮层细胞排列结构紊乱,皮层及皮层下白质内异形神经元细胞及气泡状细胞,部分患者可见皮层下白质髓鞘形成障碍及海绵样坏死灶.结论 高质量的MR图像可以显示大部分FCD病灶,包括脑皮层及皮层下白质的异常信号,是目前术前评价FCD的最佳影像检查.     

Cranial MRI findings in myotonic dystrophy

MRI was performed in 13 patients with the adult form of myotonic dystrophy (MD) and compared with that of sex- and age-matched normal controls. There was some cerebral atrophy in the patients and marked thickening of the skull in three of them, associated with ossification of the falx cerebri in two. We found high-signal areas on T 2-weighted images in the white matter in 9 (70 %) of the patients; five showed high-signal areas in the subcortical white matter of the temporal lobes. These findings were associated with intellectual impairment in only one patient, who had a history of a difficult birth and temporal lobe epilepsy. Received: 31 October 1995 Accepted: 5 March 1996     

系统性红斑狼疮性脑病的MRI表现

目的 探讨系统性红斑狼疮性脑病(NPSLE)的MRI特点.方法 回顾性分析21例经临床证实的NPSLE患者颅脑MRI图像,根据其DWI行ADC图重建,测量病灶及正常脑组织的ADC值并进行对照.结果 21例NPSLE患者中颅脑MRI检查发现异常者20例,阳性率为95%.MRI异常表现包括:(1)DWI高信号14例,11例多发,3例单发;14例中4例合并脑萎缩;病灶部位皮层下白质较皮层多见;皮层DWI高信号病灶ADC值减低(t=2.513,P=0.019),白质DWI高信号病灶ADC值升高(t=2.877,P=0.007).(2)单纯脑萎缩2例.(3)脑白质稀疏2例.(4)软化灶2例,其中1例合并脑萎缩.(5)5例NPSLE行MRI增强检查,2例强化,表现为沿脑回分布的条状、小片状强化.结论 MRI在判断NPSLE脑部病变的有无、部位、进展及转归中起重要作用.     

MRI in chronic toluene abuse: low signal in the cerebral cortex on T2-weighted images

Abstract MRI may be helpful in showing brain toxicity associated with chronic toluene inhalation. We report clinical and MRI findings over 3 years in a man with gradual neurologic decline secondary to toluene abuse. Cerebral atrophy most prominently involved the corpus callosum and cerebellar vermis. On T2-weighted images, loss of gray-white matter contrast, diffuse supratentorial white matter high-signal lesions, and low signal in the basal ganglia and midbrain were seen. In addition, MRI showed abnormal labor cortical low signal on T2-weighted images, most prominent in the primary motor and visual cortex. This cortical T2 shortening, not previously described in this condition, may reflect iron deposition. Received: 14 October 1997 Accepted: 18 December 1997     

MRI在新生儿缺氧缺血性脑病中的随访价值

目的评价MRI对缺氧缺血性脑病(HIE)患儿新生儿期及神经后遗症期随访的价值。方法回顾性分析81例HIE新生儿期及神经后遗症期的常规MRI表现及影像结果。对81例HIE患儿进行2次以上头部MR复查,首次在新生儿期,第2次在4月~4岁。足月儿66例,早产儿15例。结果81例中,2次复查后MRI异常79例(97.5%)。其中:髓鞘化异常59例(72.8%),外部性脑积水53例(65.4%),脑软化26例(32.1%),脑萎缩25例(30.9%),脑白质减少24例(29.6%)及胼胝体发育不良9例(11.1%)。轻度者复查常为外部性脑积水(26/35例)及局限性髓鞘化异常(16/35例),而中度患儿则伴有脑软化灶(12/29例),重度患儿常见脑萎缩(16/17例)或脑白质减少(15/17例)。结论常规MRI可准确反映HIE及神经后遗症期脑的形态学改变,为HIE早期干预和评估预后提供了客观依据。     

MRI findings in neuro-beh?et's disease.

AIM: To evaluate the pattern and site of involvement in neuro-Beh?et's disease (NBD). MATERIALS AND METHODS: Twenty-one patients with NBD were evaluated. Using 1.5T magnetic resonance imaging (MRI), T1-weighted axial and sagittal images, gadolinium enhanced axial and coronal images and T2-weighted axial images were obtained. RESULTS: The brainstem, basal ganglia, cerebral white matter, internal capsule, thalamus and spinal cord were involved in eighteen, nine, nine, seven, six and two patients, respectively. In nine patients with cerebral white matter involvement, four had subcortical involvement and three had periventricular involvement, in addition to two patients with focal deep white matter lesions. Among the brainstem lesions, pons involvement was seen in fourteen patients, all had ventrally located lesions, and nine had tegmental involvement. Midbrain involvement was seen in fourteen patients; the cerebral peduncle was involved in 11 of these. Five patients had brainstem atrophy: two cases were demonstrated at initial MRI, the other three cases were seen on follow-up MRI. Pyramidal signs, the most common neurological signs, were demonstrated in fourteen patients. Follow-up MRI was obtained 10 days to 20 months after the initial MRI in eight cases; all showed changes in size, shape and site of involvement. After gadolinium enhancement, thirteen patients demonstrated mottled non-confluent enhancement in the brainstem (eight patients), posterior limb of the internal capsule (three patients), pachymeninges (two patients) and spinal cord (two patients). CONCLUSION: NBD manifests a reversible course, but chronic NBD may result in brainstem atrophy. Characteristic involvement along the corticospinal tract is well correlated with neurological signs.     

Encephalopathy in AIDS patients: evaluation with MR imaging

The presence and extent of encephalopathy were evaluated in 47 patients with AIDS or AIDS-related complex (ARC) by the use of MR imaging. Twenty-nine (62%) of the patients showed some form of white matter disease, exhibited as high signal intensity on T2-weighted images. Focal white matter lesions were seen in 23 (49%) of the patients, while a diffuse white matter process was observed in six patients (13%). Of the 29 patients who had white matter disease on MR scans, 17 (36%) had a suggestion of white matter involvement on an initial CT study. Meanwhile, 12 (26%) of the patients had a normal CT scan on the initial examination. MR findings showed predominant disease in the subinsular and peritrigonal white matter areas. Marked cerebral atrophy was observed in 17 (36%) of 47 patients, cerebellar atrophy in 18 (38%), and brainstem atrophy in seven patients (15%). Pathologic findings showed that toxoplasmosis was present in eight patients (17%), and primary CNS lymphoma was present in three patients (6%). Cryptococcal meningitis was noted in two (4%) of the patients at autopsy, and Mycobacterium tuberculosis was seen in one (2%) of the patients at autopsy. MR imaging has been shown to be a valuable technique for the detection of encephalopathy in AIDS patients.     

Cerebral sparganosis: CT characteristics

Cerebral sparganosis is an extremely rare parasitic zoonosis caused by a migrating plerocercoid tapeworm larva, genus Spirometra. Nineteen computed tomography (CT) scans of 12 patients with cerebral sparganosis were retrospectively analyzed and correlated with clinical and pathologic data. On CT scans, the following characteristics were noted: (a) unilateral involvement; (b) extensive or multifocal areas of low density along white matter bundles, with ipsilateral ventricular dilatation and localized cortical atrophy; (c) nodular or irregular enhancement with spotty calcification; and (d) change in location of enhancing nodules on sequential scans. These pathognomonic features reflect a chronic inflammatory process with both active granulomatous lesions and widespread degeneration of brain tissue, especially in the white matter. Degeneration is probably caused by migration of the long-surviving larva along the fiber tracts of white matter.     

SURF-1基因604G→C突变所致Leigh综合征的MRI表现

目的 探讨SURF-1基因604G→C突变引起的Leigh综合征(Leigh syndrome,LS)的MRI表现.方法 对8例确诊为SURF-1基因604G→C突变的Ls患儿进行头颅MR检查,观察基底节、下丘脑、脑干及小脑灰质核团,大小脑白质异常及萎缩情况,并与典型LS患儿MRI改变进行比较.结果 3例Ls患儿MRI表现为脑干和下丘脑核受累,其中2例同时合并基底节异常;3例仅有大脑白质异常信号,无灰质核团受累;8例均存在脑萎缩,其中2例仅表现为单纯的脑萎缩,无灰质核团受累及白质异常.结论 SURF-1基因604G→C突变患儿的MRI表现具有多样化的特点.     

MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type

Postmortem MRI was carried out on the formalin-fixed brains of 14 patients with juvenile (JNCL) and two with late infantile neuronal ceroid lipofuscinosis, one of variant and the other of classical type. Two patients with JNCL had also undergone MRI during life. After MRI, specimens for histopathological analysis were taken from standard areas of the cerebral cortex, deep nuclei and white matter. The signal intensity of the periventricular white matter was usually higher than that of the peripheral white matter, a finding which correlated with the severe periventricular loss of myelin and gliosis observed histologically. The signal intensity was usually lower in the thalamus than in the putamen; in some patients the signal intensity of the thalamus was equal to or even lower than that of the white matter. However, myelin loss, gliosis, the storage process or neuronal loss in the thalamus did not correlate with the MRI findings. Since in one patient with JNCL the ante- and postmortem MRI did not differ basically, it appears probable that the periventricular changes detected in vivo on MRI are due to the severe loss of myelin and gliosis observed in this study. However, changes resulting from the fixation process must be considered, when postmortem and in vivo MRI are correlated. Received: 4 May 1994 Accepted: 28 February 1995     

常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病患者的MR定量指标及其与临床的关系

目的 对常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(CADASIL)患者的白质高信号和脑体积进行定量分析,并探讨其与临床的关系.方法 15例通过病理检查确诊为CADASIL的患者进行常规MR扫描,统计脑半卵圆中心、内囊后肢、外囊、胼胝体和颞极白质受病变累及情况.利用计算机后处理软件计算标准化颅脑体积和白质高信号占颅脑体积的百分比,并与年龄、美国国立卫生研究院卒中量表(NIHSS)和简易精神状态检查(MMSE)量表评分进行Spearman相关性分析.结果 CADASIL患者的白质病变累及部位依次为:半卵圆中心(13/15)、颞极白质(10/15)、外囊(8/15)、内囊后肢(5/15)、胼胝体(4/15).白质高信号占颅脑体积的百分比为(5.7±1.4)%,标准化颅脑体积为(1602±58)×103mm3.年龄与标准化颅脑体积呈负相关(r=-0.555,P＜0.05);白质高信号百分比与NIHSS、MMSE量表评分分别呈正、负相关(r=0.522,P＜0.05;r=-0.679,P＜0.01);标准化颅脑体积与NIHSS评分呈负相关(r=-0.624,P＜0.05).结论 CADASIL患者的白质高信号和脑体积可以定量测量,这两种影像学指标可以在一定程度上反映患者的病情.白质高信号的发展可能预示患者认知功能的下降.