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     

Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: an MRI and neuropathological study

We studied 12 patients with myotonic dystrophy using MRI and the Mini-mental state examination (MMSE), to see it specific MRI findings were associated with intellectual impairment. We also compared them with the neuropathological findings in an autopsy case of MD with intellectual impairment. Mild intellectual impairment was found in 8 of the 12 patients. On T 2-weighted and proton density-weighted images, high-intensity areas were seen in cerebral white matter in 10 of the 12 patients. In seven of these, anterior temporal white-matter lesions (ATWML) were found; all seven had mild intellectual impairment (MMSE 22–26), whereas none of the four patients with normal mentation had ATWML. In only one of the eight patients with intellectual impairment were white-matter lesions not found. Pathological findings were severe loss and disordered arrangement of myelin sheaths and axons in addition to heterotopic neurons within anterior temporal white matter. Bilateral ATWML might be a factor for intellectual impairment in MD. The retrospective pathological study raised the possibility that the ATWML are compatible with focal dysplasia of white matter. Received: 28 August 1997 Accepted: 25 November 1997     

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     

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.     

The fluid-attenuated inversion-recovery pulse sequence in assessment of central nervous system involvement in myotonic dystrophy

We compared the fluid-attenuated inversion recovery (FLAIR) sequence with conventional spin-echo (SE) imaging for detection of involvement of the central nervous system in five patients with myotonic dystrophy (MD). The diagnosis was made based on clinical features and DNA analysis. All patients showed abnormal high-intensity lesions in the white matter on T2-weighted images, although these were more clearly visible using FLAIR. Received: 3 January 1997 Accepted: 18 June 1997     

Magnetic resonance imaging findings of basal cell adenoma in Curschmann-Steinert myotonic dystrophy

Myotonic dystrophy Curschmann Steinert is a common hereditary disorder that in some cases can be combined with cutaneous tumors, which is an association that is rarely described in the literature. We present the magnetic resonance imaging in the unusual combination of a patient with known myotonic dystrophy and recurrent basal cell tumor.     

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     

进行性肌营养不良的MRI表现和鉴别诊断

目的：分析进行性肌营养不良（PMD）的MRI表现,为临床诊断提供参考。方法：搜集经病理证实的11例PMD患者的MRI资料,分析其信号特点及不同部位肌肉的脂肪替代程度。结果：11例PMD在FSE T1WI上均呈等、高混杂信号,在压脂FSET2wI上呈高信号4例,呈等信号7例,11例PMD皮肤信号均无异常改变。11例PMD患者中,大收肌、股二头肌和缝匠肌脂肪替代3～4级者分别为8倒、8例、1例;大收肌、股二头肌和缝匠肌脂肪替代0～1级者分别为1例、1例、7例。结论：脂肪替代是PMD的特征性表现,缝匠肌脂肪替代时的回避现象对诊断PMD有提示性作用。     

MR脑功能成像

脑部MR功能成像包括弥散加权成像、弥散张量成像、灌注加权成像、血氧水依赖性成像、脑磁共振波谱分析和磁共振波谱成像等，论述上述各脑功能成像的简单原理以及在临床上的应用。     

Cranial MRI and MR angiography in Menkes' syndrome

We report two boys with Menkes' syndrome who underwent cranial MRI and MR angiography (MRA). In both, CT and MRI revealed progressive cerebral atrophy with a subdural haematoma or effusion. Delayed myelination or dysmyelination of the white matter was suggested. Tortuosity of the cervical and intracranial vessels was well demonstrated by MRA, obviating more invasive conventional angiography should it be thought necessary to demonstrate the characteristic systemic vascular changes of this syndrome.     

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.     

MRI对Duchenne肌营养不良的诊断价值

目的 探讨MRI对Duchenne肌营养不良的诊断价值.方法 收集确诊为Duchenne肌营养不良的男性患儿64例,行盆底(62例)、大腿(62例)、小腿(59例)(共692组肌群)MRI检查,轴位T1WI、T2 WI、SPIR及冠位T2 WI扫描.由2名高年资医生独立重点观察:(1)肢体肥大或萎缩;(2)病变肌肉对称性;(3)病变肌肉累及分布;(4)MRI信号特点(脂肪浸润或炎性水肿);(5)9例治疗后复查改变.结果 (1)肢体肥大者17例(26.56％),萎缩者12例(18.75％).(2)4例(6.25％)两侧肌群累及不对称,余肌群受累基本对称.(3)①盆肌:臀大肌受累87.10％,盆底收肌67.74％(x2=6.643,P=0.010).②大腿:股四头肌82.26％,股二头肌75.81％,半腱肌62.90％,半膜肌80.65％,缝匠肌69.23％,股薄肌22.58％(x2=67.075,P=0.000).③小腿:胫骨前肌23.73％,胫骨后肌32.20％,腓肠肌81.36％,比目鱼肌57.63％(x2=48.218,P=0.000).上述肌群均表现有脂肪浸润共352组(352/692,50.87％).其中,发现炎性水肿者203组(203/352,57.67％).≥50％伴有炎性水肿肌群见于臀大肌、股四头肌、胫骨前肌、胫骨后肌和比目鱼肌.(4)9例患者经2～5年治疗复查,MRI变化不一致.结论 MRI对Duchenne肌营养不良的检查诊断有重要作用.下肢肌肉改变应重点观察大肌群如臀大肌、股四头肌、半膜肌及腓肠肌等.     

MRI在进行性肌营养不良中的应用价值

目的探讨进行性肌营养不良(progressive muscular dystrophy,PMD)的骨骼肌MRI表现与临床的相关性及其应用价值。资料与方法对22例经临床表现、血清肌酸激酶(CPK)、肌电图检查及开放式骨骼肌活检、组织及免疫病理学证实的PMD患者的临床及影像资料进行回顾性分析。结果各型肌病MRI受累肌肉分布特征为:杜兴型和贝克型为大腿前部肌群;肢带型2B型为大腿后部肌群;远端型中Welander型为大腿后部肌群及小腿前群、外侧群肌肉;Nonaka型为小腿前群、外侧群肌肉;Miyoshi型为小腿后部肌群;先天性为大、小腿后部肌群;强直性为大、小腿前、后肌群。MRI上的病变程度与病程无一致性关系。除假肥大型无肌肉水肿表现外,其余类型均有不同程度的肌肉水肿。结论 MRI表现提示不同的肌病类型有特定的分布,有助于临床鉴别某些类型的肌病。利用对脂肪沉积和水肿敏感的MRI序列,有助于理解肌病的病理过程,协助临床检查监测对治疗的反应。     

Cranial MRI in chronic thinner intoxication

We studied a 19-year-old man with thinner and toluene poisoning for 5 years by CT and MRI. Symmetrical lesions were seen in the basal ganglia and cingulate gyri.     

脑胶质肉瘤的MRI表现

目的：评价MRI对脑胶质肉瘤的诊断价值。方法：经病理证实的脑胶质肉瘤6例，回顾分析其MRI表现。结果：病灶基本上表现为长T1、长T2信号，边界清楚，多数形态不规则，伴有囊变和坏死，可伴瘤内出血，生长具有侵袭性；少数为结节状。周围服组织水肿，占位效应明显。增强扫描：6例均明显强化，4例呈不规则环状强化，2例呈结节状强化；2例直接侵犯邻近脑叶，2例发现脑内转移灶。结论：脑胶质肉瘤通常发生于额、顶叶，MRI能够清楚地显示病变，但信号改变易与多形胶质母细胞瘤、恶性胶质瘤、转移瘤等相混淆。确诊仍依赖于组织病理学诊断。     

非产后期乳腺炎的MRI表现分析

目的:分析非产后期乳腺炎的MRI表现,旨在提高对本病的认识.方法:回顾性分析30例病理证实为乳腺炎患者的临床资料及MRI表现.结果:增强后1例呈肿块样强化,29例(96.7％)表现为非肿块样强化.其中区域样强化者17例,段样强化7例,局灶性强化3例,线样及弥漫性强化各1例;65.5％(19/2 9)的病变内部强化表现为...     

磁共振成像对合并认知功能障碍的多发性硬化的研究进展

多发性硬化(MS)是较常见的中枢神经系统脱髓鞘性疾病,其发病率较高、病程较长且易累及中青年,因此本病一直是神经系统疾病的研究热点.目前对其常规影像学表现已有了较为深入的认识,但各种影像学新技术在MS中的研究尚在发展之中.其中,对MS合并的认知功能障碍研究较少,本文将对近年来有关影像学研究结果进行综述.     

颅底软骨肉瘤的MRI表现

目的：探讨颅底软骨肉瘤的MRI表现特点。方法：搜集6例经手术病理证实的颅底软骨肉瘤,分析其MR表现。结果：6例病灶分布散在,肿瘤所附着处颅底骨质破坏,局部可见大小不等肿块,多可见分叶,边界多数较为清晰,邻近脑组织无或有轻度水肿。MRI显示病灶信号欠均匀,T1WI以等信号为主,内可见斑片状更低信号区,T2WI则以高信号为主,其中混杂散在低信号或更高信号区,增强后肿瘤为不均匀的显著强化,病灶内T1WI、T2WI均为低信号区,增强后无强化。结论：颅底软骨肉瘤在MR上能够准确地进行定位诊断,其MRI表现具有一定的特点。     

Cranial MRI in the Nijmegen breakage syndrome

We present the results paragraph signof MRI examinations in ten patients with documented Nijmegen paragraph signbreakage syndrome (NBS), aged 1.75-19 years. T1-, Proton-Density- and T2-weighted spin-echo sequences were performed in three planes. All patients showed microcephaly with decreased size of the frontal lobes and narrow frontal horns. In four patients agenesis of the posterior part of the corpus callosum was found, with colpocephaly and temporal horns dilatation. In one patient callosal hypoplasia was accompanied by abnormal cerebrospinal fluid spaces and wide cerebral cortex, suspicious of pachygyria. Sinusitis was present in all ten patients, as a result of primary immunodeficiency. As in ataxia teleangiectasia and other breakage syndromes, patients with NBS show an inherited susceptibility to malignancy and hypersensitivity to X- and gamma-radiation. CT is therefore contraindicated in these patients and MRI should be the method of choice for diagnostic imaging.     

Vogt-小柳-原田综合征眼部MRI表现

目的 探讨Vngt-小柳-原田综合征(VKHS)的眼部MRI表现及其诊断价值.方法 对14例(男7例,女7例,年龄10～62岁)经临床确诊的VKHS患者的眼部MRI表现进行回顾性分析.结果 14例(28眼)在MRI均表现为视网膜.脉络膜复合体增厚,呈等T1、等T2信号.6例(12眼)伴有视网膜脱离,5例(10眼)伴有睫状体的异常增厚和强化,2例(4眼)伴有视神经炎.11例(22眼)行增强扫描,可见病变呈明显均匀强化.结论 MRI可很好地显示该病的眼部表现和累及范围,有助于VKHS的诊断及随访观察.