胼胝体发育不全并颅内畸形的MRI诊断

目的 探讨胼胝体发育不全并颅内畸形的MRI诊断价值. 资料与方法 分析18例胼胝体发育不全并颅内畸形的常规MRI颅脑平扫资料. 结果 MRI显示10例胼胝体完全缺如,6例部分缺如,2例变薄.胼胝体发育不全在MRI上表现为半球间裂增宽,与第三脑室前部异常靠近或相连（100%）;两侧脑室前角平直、分离;室间孔分离;侧脑室体部扩大、平行或体部脉络丛夹角缩小;侧脑室枕角扩大;第三脑室扩大、上移.合并灰质异位（3例）、脑裂畸形（2例）、蛛网膜囊肿（2例）、脂肪瘤（4例）、透明隔缺如（1例）、光滑脑（1例）、脑穿通畸形（3例）、丘脑融合（1例）和空洞脑（1例）. 结论 MRI可以直接显示胼胝体形态,是诊断胼胝体发育不全并颅内畸形的最佳方法.     

新生儿胼胝体发育不全的超声诊断

目的:评价超声检查在新生儿胼胝体发育不全中的应用价值.材料和方法:总结 2007-01～2009-12在湖南省儿童医院住院的9663例接受常规颅脑超声筛查的新生儿,发现18例胼胝体发育不全,与MRI比较,评价超声对诊断新生儿胼胝体发育不全的准确性.结果:18例新生儿中超声对胼胝体完全缺如、部分缺如的诊断敏感性分别为100%和80%,特异性分别为84.6%和85%,准确性分别为94.4%和83.3%,与MRI的Kappa值分别为:0.92和0.84.二者的一致率为90%.确诊的18例中有12例合并有10种其他的颅内畸形.结论:超声检查与MRI对诊断新生儿胼胝体发育不全具有高度一致性,故前者可作为筛查新生儿胼胝体发育不全的常规检查方法.     

胼胝体发育不全的影像学诊断

胼胝体发育不全是常见的颅脑畸形,包括完全缺如和部分缺如两种类型,可单独存在,也可合并其他中枢神经系统畸形.影像学检查为诊断胼胝体发育不全的重要手段,本文综述胼胝体发育不全的影像学诊断及重要意义.     

胎儿胼胝体发育不全的MRI诊断

【摘要】目的：探讨产前MRI在胎儿胼胝体发育不全（ACC）中的应用价值。方法：回顾性分析64例行头部MRI并诊断为ACC的胎儿,孕周23+1~38+1周,中位数孕周29周,采用三维容积内插快速T1WI序列、单次激发快速自旋回波序列和平衡式稳态自由进动序列扫描,分析MRI表现。结果：64例ACC胎儿中,胼胝体完全缺如者有49例,胼胝体部分缺如者15例。所有的ACC均伴有侧脑室形态异常或扩大。伴颅内其它畸形的胎儿28例。结论：胎儿MRI可以明确诊断ACC及其类型,是否伴发颅内其他畸形,对于胎儿胼胝体发育不全产前诊断及预后评价具有重要价值。     

胼胝体发育不全的MRI诊断

目的 探讨MRI对胼胝体发育不全的诊断价值。方法 回顾性分析12例胼胝体发育不全的临床及MRI表现，并结合文献加以讨论。结果 MRI显示6例胼胝体完全阙如，4例部分阙如，2例变薄。结论 MRI可以直接观察胼胝体形态，是诊断胼胝体发育不全的首选方法。     

胎儿胼胝体发育异常的产前MRI表现

目的分析胎儿胼胝体发育异常的产前MRI表现。方法对20例孕妇进行MR检查,年龄24~37岁,平均28.7岁;孕龄20~34周,平均29.3周。利用GE 1.5T MRI对胎儿颅脑进行横轴位、冠状位及正中矢状位SSFP、TSE、TFET1WI及DWI序列,扫描得到符合诊断的MRI图像,由2名影像科高级职称医师分开进行图像分析而得出结论。结果20例患者中单纯完全性胼胝体缺如14例、部分型缺如6例,伴发畸形有脑积水1例、Dandy--walker变异型畸形2例、伴大脑镰旁囊肿1例、后颅窝池增宽2例。结论 MRI能及早准确诊断胼胝体畸形及并发脑发育畸形,对于优生优育起到很好筛查和帮助。     

MRI对胎儿胼胝体缺如的诊断价值

目的 探讨MRI对胎儿胼胝体缺如的诊断价值. 资料与方法 超声（US）怀疑胎儿胼胝体缺如的孕妇9例,平均年龄25岁（18～29岁）,平均孕周32周（28～36周）,所有患者均在US检查后2天内行MRI检查.将US、MRI结果与出生后或引产后结果对照. 结果 MRI与US比较,胎儿胼胝体缺如基本一致者3例;US可疑、MRI肯定者6例,其中出生后随访证实者2例,引产后证实者4例;对于其伴发畸形,两者基本一致者5例,MRI多于US者4例. 结论 MRI对胎儿胼胝体缺如有较高的诊断价值,可作为US有利的补充及验证手段.     

高场MRI在超声疑诊胼胝体发育不全胎儿中的应用价值

目的 探讨MRI对超声疑诊胎儿胼胝体发育不全的诊断价值.方法 产前例行超声检查后疑诊有胎儿胼胝体发育不全的19例孕妇,年龄20～37岁(平均28岁),孕龄22～38周(平均29周),24 h内行MR检查, T2WI采用半傅立叶单激励快速自旋回波(HASTE) 快速扫描序列, T1WI采用二维快速小角度激励( FLASH)序列.将超声、MRI结果与尸体解剖或随访结果对照.结果 19例孕妇共检出胎儿19个,MRI证实超声疑诊的胎儿胼胝体发育不全14例,3例为单纯侧脑室轻度扩张,2例考虑脑白质发育不良,合并Dandy-Walker综合征1例,胼胝体脂肪瘤1例,检出超声漏诊合并Dandy-Walker综合征1例及脑小畸形1例.结论 MRI对胎儿胼胝体发育不全的显示明显优于超声,有助于明确胎儿胼胝体发育不全、分型及合并畸形的诊断.     

16例胼胝体发育不全的MRI诊断

目的：探讨ＭＲＩ对胼胝体发育不全的诊断价值。材料与方法：回顾性分析分析１６例（男１２例女４例，年龄９个月～４２岁），胼胝体发育不全的临床及ＭＲＩ表现，并从胚胎组织学的角度加以讨论．结果：ＭＲＩ显示２例胼胝体完全缺如，７例部分缺如，７例变薄。结论：ＭＲＩ可以直接观察胼胝形态，是诊断胼胝体发育不全的首选方法。     

脑神经元移行异常的CT、MRI表现

目的:描述脑神经元移行异常脑发育畸形的CT及MRI表现,探讨CT和MRI诊断该类畸形的价值. 材料和方法:回顾性分析6例临床资料完整脑神经元移行异常患者的CT和MRI表现. 结果:6例中,无/巨脑回畸形2例、脑裂畸形3例(双侧1例,单侧2例)、灰质异位3例.NMD畸形间相互合并2例,合并胼胝体发育不良1例,合并透明隔缺如2例. 结论:CT和MRI特别是后者,是诊断脑神经元移行异常理想和有效的方法.     

胼胝体梗死的临床和影像学分析

目的:探讨胼胝体梗死的临床和影像学特点,提高对胼胝体梗死的认识。方法:对30例胼胝体梗死患者的临床和CT、MRI、MRA资料进行回顾性分析。结果:胼胝体梗死均为单侧,按范围可分腔隙性和弥漫性。腔隙性梗死灶位于胼胝体膝部6例,体部4例,压部14例,弥漫性梗死同时累及单侧胼胝体膝、体部5例,单侧膝、体、压部1例。CT表现为圆形、卵圆形或条带状低密度影,MRI表现为T1WI像呈低信号,T2WI及水抑制序列呈高信号,CT、MRI增强扫描后无或轻度不均匀强化。MRA对弥漫性梗死可显示供血动脉不规则狭窄或闭塞。结论:CT、MRI和MRA对胼胝体梗死的诊断有重要价值。     

MRI of corpus callosal syndromes

Six patients, 6 to 13 years old, with corpus callosal abnormalities diagnosed by electroencephalography or CT were studied with a 0.15 T MR imager to determine the effectiveness of MRI in evaluating midline anomalies. Spin-echo images in the coronal, axial, and sagittal planes were obtained in two patients with Aicardi's syndrome and partial agenesis of the corpus callosum, in one patient with Dandy-Walker syndrome, and in two patients with septooptic dysplasia. Inversion recovery and spin-echo images were obtained in one patient with lipoma of the corpus callosum. Partial agenesis of the corpus callosum was seen in septooptic dysplasia, an association that has not been reported previously in the radiologic literature. Direct sagittal and coronal MRI provided better anatomic visualization of the brain and ventricles than did reformatted CT. T1-weighted images are sufficient to diagnose and delineate the extent of midline cerebral abnormalities. The unique capability of direct sagittal imaging makes MRI the best procedure for evaluating corpus callosal and other midline abnormalities.     

MR evaluation of the hippocampus in patients with congenital malformations of the brain

BACKGROUND AND PURPOSE: Developmental changes in hippocampal formations (HFs) have been reported in association with agenesis of the corpus callosum, lissencephaly, and holoprosencephaly. The purpose of this study was to evaluate the developmental changes in HFs in patients with a variety of other congenital brain malformations. METHODS: MR images of 44 patients with congenital brain malformations associated with 11 different brain disorders were reviewed retrospectively. Five patients had more than two anomalies. Imaging and clinical findings were evaluated for the shape, size, degree of inversion, and side of abnormal HF. RESULTS: Vertically oriented or globular-shaped HFs were observed in 28 patients (64%) on coronal MR images. All patients with agenesis of the corpus callosum (n = 7), lissencephaly (n = 1), holoprosencephaly (n = 3), and Fukuyama muscular dystrophy (n = 3) had an abnormal HF. A high prevalence of abnormalities was observed in patients with polymicrogyria (11/12, 92%), heterotopia (4/5, 80%), tuberous sclerosis (2/3, 67%), and schizencephaly (2/4, 50%). Patients whose abnormalities were symmetrical had bilateral abnormal HFs, whereas those with polymicrogyria, schizencephaly, and heterotopia, whose abnormalities were localized, tended to have unilateral abnormal HFs. CONCLUSION: Hippocampal developmental abnormalities are found in a high percentage of patients with congenital malformations. Focusing on the morphologic abnormalities of the HF on coronal MR images may help in the detection of diseases associated with brain anomalies, especially subtle cortical disorders.     

Dysgenesis of the corpus callosum and associated telencephalic anomalies: MRI

We analysed the MRI findings in 23 patients with callosal dysgenesis in relation to their associated telencephalic anomalies to investigate the morphological significance of the development of Probst's bundles and the anterior commissure in congenital callosal dysgenesis. We classified callosal dysgenesis into three types: total defect (9 patients), partial defect (7) and hypoplasia (7). Associated anomalies were observed in 15 patients, including migration disorder (8 patients), micrencephaly (5), and lipoma (2). The remaining 8 patients had no associated anomalies. Probst's bundles were not identified in 4 patients with a severe migration disorder. An absent or hypoplastic anterior commissure was observed in 9 of the 16 patients with callosal defect and all 7 of those with callosal hypoplasia. Colpocephaly and keyhole dilatation of the temporal horns were seen in 16 and 21 patients, respectively. Callosal dysgenesis may occur not only through a defect in the callosal anlage, but also from impaired growth of axonal fibres projecting from the cerebral isocortex. Therefore, associated telencephalic anomalies may be responsible for additional features in callosal dysgenesis. Consequently, identification of Probst's bundles and the anterior commissure may be important when assessing cortical development in patients with callosal dysgenesis. Received: 14 February 1996 Accepted: 1 August 1996     

胼胝体发育不良合并脂肪瘤的CT诊断（附10例报告）

目的通过分析胼胝体发育不良合并脂肪瘤的CT表现,探讨CT的诊断价值。材料与方法CT扫描10例胼胝体发育不良并脂肪瘤病例,对其临床及CT表现进行分析、解释。结果胼胝体发育不良并脂肪瘤的CT表现：1．双侧侧脑室体部平直、分离。2．三脑室增宽、上抬。3．双侧侧脑室三角区及枕角扩大。4．并发的脂肪瘤位于大脑纵裂内,可于脉络丛内见到第二个脂肪瘤。结论胼胝体发育不良合并脂肪瘤的CT表现具有特征性,CT能够作出正确诊断。MRI具有多维成像能力,能够准确确定病变的位置及范围,可作为CT的补充。     

Imaging findings in patients with clinical anophthalmos.

PURPOSETo review the intracranial and facial imaging features in children with congenital anophthalmos.METHODSWe retrospectively studied eight children with anophthalmos with respect to intraorbital, intracranial, and craniofacial anomalies (six had CT examinations, including the face, orbits, and brain, and four had MR imaging, including the orbits and brain).RESULTSThree patients had primary bilateral anophthalmos on CT (n = 1) and MR (n = 3) studies. In these patients, MR images showed hypoplasia of the optic chiasm and posterior visual pathways (n = 3), agenesis (n = 1) or dysgenesis of the corpus callosum (n = 2), and a mass in the tuber cinereum region (n = 1). One patient had incontinentia pigmenti. Five patients had unilateral anophthalmos on CT (n = 5) and MR (n = 1) studies. One of these patients had a contralateral congenital cystic eye and one had contralateral severe microphthalmia and absent optic chiasm. All had craniofacial anomalies that consisted of midline facial clefts (n = 2) and concomitant hemifacial hypoplasia (n = 2). One had a craniosynostosis. All five had normal-appearing brains.CONCLUSIONPatients with bilateral anophthalmos represent a distinct group from those with unilateral anophthalmos. In our patients, bilateral anophthalmos was associated with absence of the optic chiasm, diminished size of the posterior optic pathways, and agenesis or dysgenesis of the corpus callosum. Patients with unilateral anophthalmos had severe craniofacial anomalies. Imaging of the face is helpful in patients with unilateral anophthalmos.     

Beyond Isolated and Associated: A Novel Fetal MR Imaging–Based Scoring System Helps in the Prenatal Prognostication of Callosal Agenesis

BACKGROUND AND PURPOSE:Although “corpus callosum agenesis” is an umbrella term for multiple entities, prenatal counseling is based reductively on the presence (associated) or absence (isolated) of additional abnormalities. Our aim was to test the applicability of a fetal MR neuroimaging score in a cohort of fetuses with prenatally diagnosed isolated corpus callosum agenesis and associated corpus callosum agenesis and correlate it with neurodevelopmental outcomes.MATERIALS AND METHODS:We performed a single-center retrospective analysis of a cohort of cases of consecutive corpus callosum agenesis collected between January 2011 and July 2019. Cases were scored by 2 raters, and interater agreement was calculated. Outcome was assessed by standardized testing (Bayley Scales of Infant and Toddler Development, Kaufman Assessment Battery for Children) or a structured telephone interview and correlated with scores using 2-way ANOVA.RESULTS:We included 137 cases (74 cases of isolated corpus callosum agenesis), imaged at a mean of 27 gestational weeks. Interrater agreement was excellent (0.98). Scores were higher in associated corpus callosum agenesis (P < .0001) without a significant score difference between complete and partial corpus callosum agenesis (P = .38). Outcome was assessed in 42 children with isolated corpus callosum agenesis and 9 with associated corpus callosum agenesis (mean age, 3.1 years). MR imaging scores correctly predicted developmental outcome in 90.7% of patients with isolated corpus callosum agenesis, improving neurodevelopmental risk stratification in corpus callosum agenesis.CONCLUSIONS:The scoring system is very reproducible and can differentiate isolated corpus callosum agenesis and associated isolated corpus callosum agenesis (significantly higher scores) but not between partial and complete corpus callosum agenesis. Scores correlated with outcome in isolated corpus callosum agenesis, but there were too few associated postnatal cases of isolated corpus callosum agenesis to draw conclusions in this group.

Corpus callosum (CC) agenesis (CCA) is one of the most common malformations of the CNS.¹ Rather than a single entity, CCA is an umbrella term defined by anatomy, independent of etiology or outcome. To further complicate matters, CCA includes several subtypes, including complete (when the entire CC is missing) and partial (when part but not all of the CC is absent), but CCA often also includes several degrees of hypoplasia (CC present but of reduced dimensions) and dysgenesis (CC present yet malformed). Each option may be seen in isolation (no other fetal brain or body malformations) or in the context of a polymalformative or genetic condition.^1-3In terms of outcome risk stratification, patients with associated CCA (aCCA) are at a high risk of neurodevelopmental delay,⁴ while isolated CCA (iCCA) is associated with development within the normal range in up to 88% of children.^5-9 Other features, such as the presence of Probst bundles or sigmoid bundles, have been used inconsistently in an attempt to predict outcome.^10,11 In an attempt to improve risk stratification in iCCA, we developed and tested a score based on anatomic features evaluated on fetal brain MR imaging in patients with detailed postnatal neuropsychological outcomes.¹²This study aimed to test the validity of an MR imaging score initially developed for isolated congenital CCA in a heterogeneous group of complete and partial CCA and to correlate it with neurodevelopmental outcomes.