Menkes病颅内MRI表现及基因变异类型对照分析

【摘要】目的：结合其基因变异类型,探讨Menkes病的颅内MRI表现。方法：回顾性分析经基因检测明确变异类型的6例Menkes病患儿的MRI资料。所有患儿行常规MRI（T1WI、T2WI、T2-FLAIR及DWI）检查,2例行MRA检查。结果：6例患儿的ATP7A基因变异类型包括错义变异3例、移码变异2例,剪切变异1例。颅内MRI影像表现多样,6例患儿均表现为不同程度脑萎缩及基底节区非对称性长T2信号,其中3例DWI上可见基底节区扩散受限信号;4例患儿颅内主干血管及分支呈卷发样迂曲改变,3例患儿早期伴颞枕部脑叶肿胀。在3种ATP7A基因变异类型中以非错义变异组患儿的颅内MRI改变更显著。结论：Menkes病的颅内MRI表现有一定特征性,不同ATP7A基因变异类型的颅内MRI表现有一定差异。     

神经纤维瘤病MR影像表现

目的　分析并探讨神经纤维瘤病的分型及各型的MR影像学表现。方法　回顾性地分析 8例神经纤维瘤病患者的临床及影像学资料 ,所有病例均常规行MRI及钆剂强化扫描 ,归纳所有患者的临床表现及影像学特点。结果　根据NIH的诊断标准 ,8例中 ,4例属NF -1型 ,均在脑内胶质瘤、椎管内神经纤维瘤或脑内对称部位的异常信号基础上 ,合并有皮肤的咖啡牛乳色斑或多发神经纤维瘤 ,其中 1例有家族史 ;4例属NF -2型 ,均患双侧听神经瘤 ,2例合并髓内星型细胞瘤。结论　NF -1型在所有神经纤维瘤病中占大多数 ,且多合并有皮肤损害 ;NF -2型较少见 ,典型表现为双侧听神经瘤 ,皮损少见。MRI及强化扫描对检出神经纤维瘤病中枢神经系统的损害方面有优势     

线粒体脑肌病综合影像表现

目的:探讨多种影像技术对线粒体脑肌病(ME)的诊断价值.方法:回顾性分析7例线粒体脑肌病患者的影像资料,其中7例行常规MRI扫描,3例行MRA扫描,4例行MRS扫描,1例行DSA检查,6例行CT平扫.结果:6例病变主要累及两侧大脑皮层和皮层下,1例主要表现为白质内改变,均表现为长T1、长T2改变;MRA示2例未见明显改变,1例示病变处血管分支明显增粗;4例MRS在病变处检出乳酸双峰,1例在脑脊液中检出乳酸双峰.1例行DSA检查示病灶内血管分支增粗,血运加快.6例行CT检查病灶均呈低密度改变.结论:影像检查尤其是MRI检查对ME的诊断提供了丰富的信息,当年青患者出现非典型性脑梗死表现,MRS检出乳酸双峰时要考虑到线粒体脑肌病的可能.     

乏脂质肾上腺皮质腺瘤的MR影像表现

目的 分析肾上腺皮质腺瘤中不含脂质类型的MR表现.资料与方法 回顾性分析2008～2010年经手术病理证实的6例不含脂质的肾上腺皮质腺瘤的MR影像表现,总结肾上腺皮质腺瘤的不典型MR影像特征.结果 6例皮质腺瘤在MR影像上表现为化学位移成像反相位图像信号未见降低(不含脂质),5例出现囊变坏死,5例动脉期轻度强化,1例中度强化,扩散加权成像(DWI)图像均呈混杂高信号,平均表观扩散系数(ADC)值为0.718×10-3mm2/s.结论 肾上腺皮质腺瘤的不典型MR表现主要为体积较大、信号混杂、少血供,有利于与肾上腺其他肿瘤鉴别.ADC值有望进一步增强诊断的准确性.     

自身免疫性肝病重叠综合征的 MR 表现

目的：探讨自身免疫性肝病重叠综合征的MR表现及其诊断价值。方法收集7例病理确诊的自身免疫性肝病重叠综合征患者,并对其行M R检查,扫描序列包括T1 WI、T2 WI、DWI、M RCP。2位有经验的影像诊断医师单盲方法独立阅读每位患者的影像资料。结果自身免疫性肝炎（AIH）／原发性胆汁性肝炎（PBC）4例、AIH／原发性硬化性胆管炎（PSC）1例、PBC／PSC 1例、AIH／PBC／PSC 1例。AIH／PBC同时具备AIH和PBC的影像学特征,AIH／PSC同时具备AIH和 PSC的影像学特征,PBC／PSC同时具备PBC和PSC的影像学特征,AIH／PBC／PSC同时具备AIH、PBC和PSC的影像学特征。结论当某一种自身免疫性肝病患者同时具有其他类型自身免疫性肝病的影像学特征时,考虑此患者已发展为自身免疫性肝病重叠综合征。     

儿童Kallmann综合征的影像表现

目的 总结儿童Kallmann综合征(KS)的影像表现,提高对该病的认识.方法 搜集经临床证实且有影像资料的KS患儿13例,患儿均经颅脑MR、左腕骨X线检查,其中8例行腹盆腔B超检查,分析总结其影像表现.结果 13例患儿中,9例双侧嗅球、嗅束缺如;4例一侧嗅球小、嗅束细小或显示不清,另一侧嗅球嗅束缺如.8例双侧嗅沟不同程度浅小,其中2例一侧嗅沟消失;3例一侧嗅沟浅、一侧正常;2例双侧嗅沟正常.3例伴垂体前叶小.6例骨龄落后.B超检查8例中,双侧睾丸均小.结论 儿童KS均有嗅脑发育不良的MRI表现,部分伴垂体前叶发育不良;近半数伴骨龄落后;双侧睾丸均小.     

成人脊椎结核的MR表现

近年来，脊椎结核的发病率有所上升，因它的致残率较高，应引起我们的高度重视。我们总结了30例经手术病理证实的脊椎结核的MRI表现，结合以往文献总结如下。     

关节软骨MR影像表现特点和各种影响因素

目的探讨关节软骨的ＭＲＩ表现特点以及各种因素对软骨层次、厚度和信号强度的影响。方法取１２只新鲜人膝关节标本,行各种位置和序列的ＭＲ成像。标本脱钙、切片、染色后用偏光显微镜观察。结果ＭＲＩ上关节软骨的厚度、层次和信号强度与软骨内纤维排列方向、软骨基质的含量、各区域宽度、容积效应、化学位移、各向异性和成像序列密切相关。结论ＭＲＩ检查判断关节软骨结构需兼顾年龄和其他诸多技术因素     

肾上腺疾病的MR影像诊断

本文对５０例正常肾上腺，４２例共４９个肾上腺病灶的ＭＲ影像进行分析，结果表明：（１）正常肾上腺信号均匀，显示率与ＣＴ相似；（２）ＭＲ可清晰显示大于１．０ｃｍ的病灶及其与周围结构的关系；（３）ＭＲ对腺瘤与转移瘤的鉴别有较大的帮助，Ｔ＿２ＷＩ腺瘤类似于肝脏的信号强度，转移瘤与脂肪的信号强度相似；（４）嗜铬细胞瘤的ＭＲ影像有特异性，Ｔ＿２ＷＩ呈明显高信号，４５％见散在点状短Ｔ＿２低信号区。     

木村病的影像表现及文献复习

目的 探讨不同部位木村病的CT及MRI表现.方法 收集本院经病理证实19例木村病患者的CT和MRI行回顾性分析,并结合文献讨论.结果 19例木村病中累及头颈部16例、肺内1例、胸壁1例、肝脾受累1例.头颈部木村病CT表现为结节、团块及弥漫性密度异常,平扫与肌肉密度相似,T1WI呈等或稍低信号,T2WI呈高信号,CT和MRI增强扫描多为中度或明显强化.肺内及胸壁木村病表现为软组织肿块,增强扫描肺内病灶呈中度强化,胸壁病灶呈环形强化.肝脾同时受累木村病病灶呈散在结节状轻度强化灶.结论 木村病影像学表现缺乏特征性,需结合实验室检查及病理综合判断.     

MR of progressive neurodegenerative change in treated Menkes' kinky hair disease

Summary MR examinations of a male child with Menkes' kinky hair disease, a genetic disorder of copper metabolism, at four months and 30 months, document the progression of neurodegenerative changes despite parenteral copper therapy. These changes include severe cortical and cerebellar atrophy, deranged cerebral vasculature, and subdural fluid collection.     

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.     

MR findings in leukodystrophy

Summary Up to 5 years ago, the radiological diagnosis of leukodystrophy was based on computed tomography (CT). More recently, magnetic resonance imaging (MRI) has been used to study pathology of the white matter with great success. The abnormalities in eight patients with different types of leukodystrophy are described, using high-field MRI. CT and MRI show comparable sensitivity in detecting the pathological changes of leukodystrophy. MRI seems to be superior in visualizing the extent of the lesions, their precise anatomical location and any involvement of the brain stem and cerebellum. Differential diagnosis among the three types of leukodystrophy by MRI is difficult but may be attempted by some features. Specific diagnosis can be achieved only by laboratory examination or histology. The role of MRI should be to suggest the proper biochemical test at an earlier stage.     

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     

Menkes' kinky hair disease

Summary Four new cases of Menkes' kinky hair disease are reported with special attention to the vascular and particularly the cerebral vascular changes.     

肠道病毒71型感染手足口病合并脑炎的MRI表现及特征

目的探讨肠道病毒71型感染手足口病合并脑炎的MR表现及特征,为临床诊断及及时治疗提供帮助。方法回顾性分析2009年4月～2011年7月临床诊断为手足口病合并脑炎并行颅脑MR扫描的64例患儿的图像资料,所有病例均经病原学检查证实为肠道病毒71型感染。结果脑干病变共计32例,其中桥脑6例(主要位于桥脑背侧),延髓8例(6例表现为延髓背侧对称性小片状信号,2例为偏中心病灶),桥脑-延髓交界区8例,中脑10例(多位于双侧大脑脚,呈片状);小脑齿状核4例(双侧);丘脑4例(均为单侧丘脑,斑点状或小片状);右侧内囊后肢1例(呈条形);基底节区9例(多为斑点状信号);放射冠区、半卵圆中心及双侧额、顶叶皮质下区者共38例(病变多为多发斑点状信号);其中病灶位于单个部位者35例(35/64,54.69%),位于多个部位者29例(29/64,45.31%)。结论手足口病合并脑炎发病部位广泛,不只局限于脑干,基底节、内囊后肢、丘脑、小脑齿状核及双侧大脑白质区均可累及。总结其易发病部位,依次为脑干、脑白质、基底节、丘脑、小脑齿状核,MR颅脑扫描能真实、准确显示手足口病合并脑炎脑部受损情况,可为临床诊断及时治疗提供可靠的影像学依据。     

MR扩散加权成像对Creutzfeldt-Jakob病的诊断意义

目的评价MR扩散加权像(DWI)对Creutzfeldt-Jakob病(CJD)的诊断价值。方法8例散发性CJD(4例确诊，3例临床很可能，1例临床可能)，比较其常规MRI及DWI检查结果。结果T1WI及LWI除4例显示脑萎缩外，未见异常信号；而8例DWI均异常，其中2例为单纯大脑皮层高信号改变，6例为大脑皮层合并尾状核、壳核高信号改变，5例呈对称性，3例呈非对称性；1例液体衰减反转恢复(FLAIR)序列成像显示大脑皮层呈稍高信号，但不如DWI明显。结论DWI显示的大脑皮层和(或)纹状体的高信号改变是CJD的特征之一，其诊断价值明显优于常规MRI，是早期诊断CJD的重要方法。     

Shy—Drager综合征与纹状体黑质变性MRI—病理对照研究

目的：探讨Ｓｈｙ－Ｄｒａｇｅｒ综合征（ＳＤＳ）、纹状体黑质变性（ＳＮＤ）ＭＲＩ异常信号与病理改变的关系。材料与方法：分别对ＳＤＳ、ＳＮＤ各１例脑标本进行ＭＲＩ扫描与病理对照研究。使用自旋回波（ＳＥ）序列扫描，对照ＭＲＩ图像所显示的异常信号行标本大体及镜下观察。结果：ＳＤＳＭＲＩ显示壳核对称性短Ｔ２低信号，病理改变为神经细胞数量减少，铁元素过度沉积；ＳＮＤＭＲＩ显示双侧壳核等Ｔ１、长Ｔ２信号，病理证实为神经细胞数量减少并坏死，胶质增生、毛细血管增多、脂褐素增多。结论：ＭＲＩ壳核异常信号的显示对生前诊断ＳＤＳ与ＳＮＤ具有重要参考价值     

脂肪肝：MRI影像表现及MRI序列选择

目的：选择评估脂肪肝的MRI序列和认识脂肪肝的MRI影像表现以帮助鉴别诊断,方法：18例脂肪肝病人进行了肝脏平扫和增强MRI,采用屏气同,反相位T1加权梯度回波序列,2D FLASH加脂肪抑制T1WI以及HASTE T2WI。结论：18例肝脂肪变中伴有7例肝癌,2例血管瘤,1例囊肿,5例肝硬化;弥漫型脂肪浸润6例,局灶型脂肪浸润12例,脂肪肝影像表现,T1WI同相位表现为稍高或等信号,反相位或加压脂T1WI呈低信号;T2WI呈稍高或等信号,部分脂肪肝伴脂内肿块在反相位或加压脂TWI上可见低信号肿块周边全周或部分环状高信号带,在增强MRI上无明显强化,有时见少量小血管进入其内,结论：同与反相位MRI能较好鉴别诊断脂肪肝,两者互补,缺一不可,可避免脂肪肝的误诊或汤诊。建议对疑有脂肪肝患者行同,反相位T1加权MRI扫描。     

CT and MR findings in HIV-negative neurosyphilis

BACKGROUND AND PURPOSE: The purpose of this study was to describe and evaluate neuroimaging findings of patients with neurosyphilis. METHODS: The neuroimaging studies of 14 patients with documented neurosyphilis were reviewed. Diagnosis was established in 14 patients with cerebrospinal fluid for a Treponema Pallidum Particle Agglutination (TPPA) test. All patients had reactive TPPA and Unheated Serum Regain test (USR) in their sera. Imaging studies included plain, contrast-enhanced CT of the brain, plain and gadolinium-enhanced MR, and MR angiography. RESULTS: In the 14 HIV-negative patients with neurosyphilis, CT and MR showed the presence of cerebral infarction in six cases, arteritis in four cases, nonspecific white matter lesion in three cases, acute syphilitic meningitis in one case and normal neuroimaging finding in one case. In addition, 4 in 14 patients had general paresis, and MRI showed high signal intensity on T2 -weighted images involving frontotemporal lobes, hippocampus and periventricular area. Treatment with penicillin significantly diminished the size of these high signal intensity on T2-weighted images with general paresis. CONCLUSION: These results suggest that MR and CT images have some characteristic manifestations in patients of neurosyphilis. Because early diagnosis and treatment of neurosyphilis are crucial to avoid persistent brain damage, the neuroimaging findings are valuable adjunct to clinical diagnosis and to provide useful information to follow-up after therapy.