小儿侧脑室旁白质软化症的CT、MRI诊断

目的 探讨小儿侧脑室旁白质软化症(PVL)的病因与临床及CT与MRI诊断价值.方法 选择临床CT及MRI证实的180例PVL病例进行回顾性分析.结果 脑白质密度/信号改变154例;脑白质减少168例;侧脑室扩大160例;侧脑室形态不规则159例;侧裂池和/或脑沟加宽加深109例;胼胝体发育异常59例.CT、MRI表现脑室不同程度扩大,侧脑室旁白质减少.结论 CT、MR扫描在PVL的诊断方面有着重要的价值.     

儿童白质消融性脑白质病的MRI表现

目的 探讨白质消融性脑白质病(VWM)的MRI特征表现.方法 回顾性分析2008年至2013年间经本院儿科基因确诊为VWM的10例患儿的临床及MR资料.由2名资深的神经放射医师进行阅片,对白质病变部位(大脑、小脑、脑干、胼胝体及内外囊)、范围、信号特点、有无囊变、脑萎缩及基底节受累等进行分析.结果 10例大脑中央白质均弥漫受累,9例部分皮层下白质受累,7例伴U形纤维受累;7例伴有囊变;8例内囊后肢受累,7例外囊受累,8例胼胝体内缘(透明隔缘)受累.2例丘脑和苍白球出现异常信号,6例脑干白质受累,7例小脑白质受累.结论 大脑中央白质出现弥漫对称的异常信号伴囊变是VWM特征性的MRI表现,对该病的诊断具有重要价值.     

儿童异染性脑白质营养不良的MRI表现

目的 观察异染性脑白质营养不良（MLD）的特征性表现。方法 回顾分析我院经生化检查证实的MLD共11例,观察MRI上脑内白质病变的部位和特殊结构（白质纤维束、丘脑、胼胝体）受累的情况。结果 11例均表现为双侧脑室周围白质T2WI对称高信号,10例双侧半卵圆中心T2WI对称高信号;4例累及皮层下白质。8例累及胼胝体膝部,9例累及压部,两者同时受累为8例;7例累及内囊后肢,4例累及外囊,4例累及脑干皮质脊髓束（3例中脑,1例桥脑）。1例累及小脑白质,8例半卵圆中心T2WI有虎纹征,8例T2WI丘脑呈低信号;5例侧脑室扩大,1例全脑萎缩。结论 MLD的典型表现为双侧半卵圆中心和侧脑室周围白质T2WI对称高信号,早期皮层下白质不受累,胼胝体膝部和压部受累为重要征象;另外征象包括脑干皮质脊髓束和内、外囊受累及虎纹征。     

小儿脑室周围白质软化症的临床特征和MRI表现

目的 探讨小儿侧脑室周围白质软化症(PVL)的临床特点与MRI影像学表现.方法 对14例PVL的临床资料及磁共振表现进行回顾性分析.结果 PVL的MRI表现包括脑室旁软化灶形成(10例)、侧脑室变形(9例)、脑白质减少(7例)、脑沟及脑裂加深(6例)等,软化灶分布在侧脑室周围及半卵圆中心区,形态大小不一,为长T1、长T2信号、flair为低信号;临床表现为:发育迟缓(6例)、癫痫(7例)、肢体功能障碍(6例)、视力损害(1例)等,7例患儿有缺血缺氧病史.结论 PVL的影像学表现具有一定特征性,MRI是诊断PVL的主要方法.     

神经元移行异常的MRI诊断

目的分析各种神经元移行异常的MRI特征。方法分析50例神经元移行异常的MRI表现,总结MRI影像特征。结果灰质异位23例,脑裂畸形12例,多小脑回9例,巨脑回5例,无脑回1例。脑灰质异位MR表现为皮质下,白质区,侧脑室室管膜下结节状、团块状或带状病灶,在所有序列上与正常脑灰质信号相同。脑裂畸形表现为大脑半球的横行裂隙,边缘衬有灰质。多小脑回畸形表现为脑回增多、细小而浅。巨脑回畸形表现为脑回增宽,灰质增厚,白质变薄。无脑回畸形表现为大脑半球呈肾形,正常脑沟和脑回消失,皮质增厚,白质变薄。结论MRI是诊断神经元移行异常的最佳影像方法。     

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.     

急性播散性脑脊髓炎的脑部MRI表现

目的 探讨急性播散性脑脊髓炎(ADEM)的脑部MBI表现特点。资料与方法符合临床诊断标准的ADEM患者9例,在症状出现后1个月内行MRI平扫及增强扫描,采用自旋回波(SE)或快速自旋回波(FSE)序列,常规行横轴位、矢状位及冠状位扫描。结果 (1)病变主要位于大脑白质内,其中累及半卵圆中心及侧脑室旁白质9例。(2)大脑半球内病灶特点为多发且分布不均匀,4例在侧脑室旁可见“垂直征”。(3)8例呈大小不等的片状合并部分点状分布,1例点状分布为主。(4)均表现为TlWI低信号,T2WI高信号。(5)9例注射Gd-DTPA后,7例可见显著异常强化,其中4例以环形强化为主,3例为点片状强化,另2例未强化。(6)4例急性期见灶周水肿,其中2例有占位效应。结论ADEM的脑部MRI表现有一定的特征性,MRI具有重要诊断价值。     

表观扩散系数值对急性一氧化碳中毒后迟发性脑病的诊断价值

目的 探讨ADC值对急性CO中毒后迟发性脑病(DEACMP)的诊断价值.方法 回顾件分析经临床确诊的32例DEACMP患者的临床和MR资料,同时选取头颅MRI表现正常的健康志愿者40名作为正常对照组.所有受试者均进行常规MR扫描及DWI,分别对称性测量苍白球、白质(侧脑室周围白质、半卵圆中心)、皮层(额叶、顶叶)的平均ADC值(ADCav).32例DEACMP患者根据常规MRI上有无异常信号分为有异常信号DEACMP组(20例)、无异常信号DEACMP组(12例),所有患者跟踪随访1年以上,13例患者无明显症状,3例偶有轻微头痛、头晕(预后较好组);15例有智能障碍、精神异常,1例反应迟钝、生活不能自理、大小便失禁(预后不良组).DEACMP组与正常对照组、异常信号与无异常信号DEACMP组、无异常信号DEACMP组与正常对照组、预后较好组与预后不良组间各个部位ADC值的比较采用独立样本t检验.结果 32例DEACMP患者20例有异常影像表现.MRI表现可分为3个类型:(1)脑白质受累型;(2)神经核团受累型;(3)皮层受累型.12例常规MRI上无肉眼所见异常信号.32例DEACMP患者ADCav值均下降,ADCav值[侧脑室周围白质(0.62±0.06)×10~(-3) mm~2/s、苍白球(0.67±0.05)×10~(-3)mm~2/s、半卵圆中心(0.57±0.07)×10~(-3)mm~2/s]较正常对照组[(0.74±0.03)×10~(-3)、(0.74±0.04)×10~(-3)、(0.73±0.05)×10~(-3)mm~2/s]降低(t值分别为2.82、2.89、2.98,P值均＜0.01);有异常信号DEACMP组的ADCav值[侧脑室周围白质(0.58±0.08)×10~(-3)mm~2/s、半卵圆中心(0.52±0.09)×10~(-3)mm~2/s]与无异常信号DEACMP组[(0.66±0.05)×10(-3)、(0.62±0.06)×10(-3)mm~2/s]比较,差异有统计学意义(t值分别为4.45、3.98,P值均＜0.01);无异常信号DEACMP组ADCav值[侧脑室周围白质(0.66±0.05)×10~(-3) mm~2/s,半卵圆中心(0.62±0.06)×10(-3) mm~2/s]与正常对照组[(0.74±0.03)×10(-3)、(0.73±0.05)×10~(-3)mm~2/s]比较,差异有统计学意义(t值分别为2.45、3.72,P值均＜0.05).预后不良组ADCav值[侧脑室周围白质(0.56±0.02)×10~(-3)mm~2/s、半卵圆中心(0.50±0.06)×10~(-3)mm~2/s]与预后较好组[(0.63±0.04)×10~(-3)、(0.58±0.05)×10~(-3) mm~2/s]比较,差异有统计学意义(t值分别为6.19、4.12,P值均＜0.01).结论 白质区(尤其是半卵圆中心)ADC值降低对DEACMP诊断具有重要价值,对常规MRI有异常信号的DEACMP患者,定量ADCav值可以量化中毒程度,作为DEACMP的发生、发展及预后评估的参考;对有临床症状而常规MRI上无异常信号患者,ADC值是诊断DEACMP较敏感指标.     

Menkes病的MR影像表现

目的 探讨Menkes病的MRI特征.方法 回顾性分析2006年至2012年间9例确诊为Menkes病患儿的临床及MR影像资料.9例患儿均为男性,年龄3.5～10.0个月,中位年龄6.0个月.临床有癫痫发作、智力及运动发育落后、头发稀少及卷曲、血清铜蓝蛋白值低等表现.由2名资深的神经放射医师对其头颅MRI及MRA影像进行评价,评价内容包括颅内血管改变、脑白质异常、脑萎缩、硬膜下积液或积血等.结果 9例患儿中,8例有颅内血管迂曲样改变;8例有脑白质发育落后;1例双侧颞叶白质一过性异常及双侧额叶白质异常,2例双侧颞叶白质明显异常并累及皮层下白质,1例右侧额叶白质异常;5例患儿有大脑萎缩;7例患儿有小脑萎缩;1例为双侧顶、枕叶局限性脑萎缩;6例患儿有硬膜下积液或积血;1例患儿有双侧基底节异常.结论 Menkes病的MR表现有特征性,表现为颅内血管迂曲、脑白质发育落后、脑白质异常、硬膜下积液等,MRI及MRA检查有助于Menkes病的诊断.     

肾上腺脑白质营养不良MRI诊断

目的 分析肾上腺脑白质营养不良(ALD)的影像图像特点,提高MRI对ALD诊断的准确性.方法 收集本院1993-2008年间经生化和临床证实的ALD共9例,所有病例均行MRI检查.结果 9例病人均表现为双侧对称性侧脑室三角区白质病变,呈T_1 WI低信号,T_2 WI高信号,经胼胝体压部相连,呈蝶翼状分布;其中1例仅累及枕叶, 6例累及顶枕叶,2例累及顶枕颞叶.8例累及胼胝体压部,5例累及丘脑后外部.2例增强扫描表现为病灶周边环状强化,脑干病灶亦强化.结论 MRI能准确反映ALD病变和病程.     

MR imaging findings in children with merosin-deficient congenital muscular dystrophy

BACKGROUND AND PURPOSE: Our purpose was to determine the brain MR imaging characteristics of merosin-deficient congenital muscular dystrophy in children. METHODS: We reviewed the MR imaging findings of the brain in three children with known merosin-deficient congenital muscular dystrophy to determine the presence of any cerebral or cerebellar abnormalities of development or abnormalities of the white matter. RESULTS: In all three patients, there was normal formation of the cerebrum, the cerebellum, and no evidence of neuronal migration anomalies. All three patients had abnormal white matter in the cerebrum, with sparing of the corpus callosum, internal capsule, cerebellum, and brain stem. CONCLUSION: MR imaging of the brain in children with merosin-deficient congenital muscular dystrophy reveals a consistent pattern of white matter abnormality. We postulate that disruption of the blood-brain barrier associated with merosin deficiency leads to increased water content, resulting in abnormal white matter signal intensity.     

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

We present the MRI findings in five patients with congenital muscular dystrophy (CMD) and merosin (laminin α 2) deficiency, which was total in one and partial in four. In one patient with partial merosin deficiency, MRI was normal. The other four patients had supratentorial white matter abnormalities. In three, T2-weighted images revealed subcortical, deep lobar and periventricular high signal in white matter, while in the other there were only small peritrigonal areas of increased signal. On T1-weighted images, there was slightly low signal. Cortical abnormalities were absent. None of these changes were accompanied by symptoms or signs of central nervous system involvement. White matter abnormalities in a patient with CMD should prompt investigation of merosin. Received: 22 December 1997 Accepted: 22 April 1998     

Serial MRI in Fukuyama type congenital muscular dystrophy

Summary Serial MRI of the brain of a female infant with Fukuyama type congenital muscular dystrophy (FCMD) is presented. Initial MRI revealed diffuse abnormal signal in the cerebral white matter extending peripherally. On follow-up studies, the abnormal signals disappeared or decreased from the posterior to anterior, and from central to peripheral. These changes in signal intensity correlate well with the process of myelination as demonstrated in histochemical studies. It appears that the abnormal signals in FCMD are caused by delayed myelination. When abnormal signal intensity is seen in the cerebral white matter of a developmentally delayed infant, serial MRI may be used to follow the course of the illness.     

Invited. Fukuyama congenital muscular dystrophy: A neuroradiologic review

We reviewed neuroradiologic findings of Fukuyama congenital muscular dystrophy (FCMD) and correlated them with the known neuropathology. All patients showed thick and bumpy cortices with shallow sulci corresponding to polymicrogyria, and approximately half of the patients showed pachygyric cortex with smooth surface corresponding to type II lissencephaly. The two types of cortical dysplasias presented characteristic distributions: the former demonstrated frontal lobe involvement in all and parietotemporal lobe involvement in some, whereas the latter involved the temporo-occipital lobes. Most patients showed prolonged T1 and T2 signal in the white matter, which was indistinct in neonates and infrequently seen in adolescents. Cerebellar polymicrogyria depicted as disorganized cerebellar foliation accompanying cysts were found more than 90% of the patients. In conclusion, brain MRI demonstrates findings consistent with the known neuropathology of FCMD. The detection of the two types of cerebral cortical dysplasia with characteristic distribution and cerebellar abnormalities is helpful in the differential and early diagnosis.     

Brain MR in Fukuyama congenital muscular dystrophy.

PURPOSETo determine the MR characteristics of brain abnormalities in Fukuyama congenital muscular dystrophy (FCMD).METHODSWe reviewed 30 MR examinations of 21 patients with FCMD to assess cerebral and cerebellar cortical dysplasia, white matter changes, and miscellaneous abnormalities.RESULTSOn MR images, all patients had thick and bumpy cortices with shallow sulci corresponding to polymicrogyria, and 12 patients had pachygyric cortices with smooth surfaces, corresponding to type II lissencephaly. Both types of cortical dysplasia had characteristic distributions: the first type involved the frontal lobe in all 21 patients and also the parietotemporal lobe in 6 patients; the second type involved the temporooccipital lobes. Eighteen patients had prolonged T1 and T2 signal in the white matter, which was indistinct in neonates and seen infrequently in adolescents. In four patients, abnormal vessels were seen within the pachygyric cortices.CONCLUSIONMR studies of the brain show findings consistent with the known characteristics of FCMD. The MR detection of the two types of cerebral cortical dysplasia with characteristic distribution and cerebellar abnormalities is helpful in the differential and early diagnosis of FCMD.     

Intracranial arachnoid cysts in myotonic dystrophy

Summary Clinically apparent brain dysfunction is common in myotonic dystrophy. In a sample of fourteen adult patients with the definite form of this disease, brain magnetic resonance imaging detected frequent white matter abnormalities and ventriculomegaly. In addition, two patients exhibited an intracranial arachnoid cyst, a condition of neurosurgical interest that could be related to the generalized dysmaturational process present in this disease. Patients with myotonic dystrophy deserve a careful screening for brain involvement. Further MRI studies should ascertain the actual prevalence of brain anomalies in myotonic dystrophy and define the role of this procedure in the workup of this disease.     

MRI of the brain in muscle-eye-brain (MEB) disease

Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy. Their features overlap, and differential diagnosis presents some difficulties. We examined the brain of 10 patients with MEB using highfield MRI and found a uniform pattern consisting of a pachygyria-type cortical migration disorder, septal and corpus callosum defects and severe hypoplasia of the pons in 7 of them.     

The clinical and genetic correlates of MRI findings in myotonic dystrophy

Amplification of an unstable CTG trinucleotide repeat sequence in a protein kinase gene on chromosome 19 has recently been recognised as the molecular basis of myotonic dystrophy (DM), a multisystem disorder with a wide spectrum of muscular and extramuscular manifestations. The CTG expansion of 40 patients was assessed by direct genotype analysis of the white blood cell DNA and correlated with MRI of the brain and muscles, and with functional clinical data. Cerebral pathology on MRI consisted of diffuse atrophy (68 %), subcortical white matter lesions (65 %), wide Virchow-Robin spaces (38 %) and thickening of the skull (35 %). Cerebral atrophy and extent of white matter disease correlated significantly with mental retardation, duration of disease and CTG fragment amplification. MRI of the muscular system showed fatty degeneration of different degrees in neighbouring muscles causing a mosaic pattern of the thigh in 38 % and the calf in 44 %. Muscular changes on MRI were strongly correlated with muscular impairment but less strongly with CTG expansion. Changes on MRI reflect the stage of development of tissue pathology in DM, modified by defect of the DM gene. Pathology on MRI is strongly correlated with functional deficits. Received: 12 April 1995 Accepted: 25 August 1995     

Nuclear magnetic resonance (NMR) imaging in white matter disease of the brain using spin-echo sequences

Attention is drawn to the use of nuclear magnetic resonance (NMR) spin-echo sequences in the recognition of white matter disease of the brain. In 5 patients with multiple sclerosis, 8 lesions were seen with postcontrast x-ray computed tomography (CT) (37.5 g of iodine), 33 with inversion-recovery (IR) scans, and 47 with spin-echo (SE) scans. Partial volume effects were less of a diagnostic difficulty with SE scans than with IR scans. Extensive areas of abnormal white matter were seen with CT, IR, and SE scans in a patient with leucodystrophy associated with congenital muscular dystrophy. In a patient with adrenoleucodystrophy focal lesions were seen with CT, IR, and SE scans. In addition, loss of gray-white matter contrast was seen in both occipital lobes with IR scans. Extensive areas of white matter involvement were also seen in a case of Binswangers disease.     

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