Leventer R J, Phelan E M, Coleman L T, Kean M J, Jackson G D, Harvey A S
Department of Neurology, Royal Children's Hospital, Melbourne, Australia.
Neurology. 1999 Sep 11;53(4):715-22. doi: 10.1212/wnl.53.4.715.
To determine the types, relative frequencies, clinical features, and MRI characteristics of malformations of cortical development (MCD) occurring in a cohort of children referred to a tertiary pediatric center.
Original MR images were reviewed by two investigators, who were blinded to clinical details, to determine the elemental imaging features of each malformation and to label these malformations according to an existing system of classification. Clinical information was collected by a review of hospital records.
A total of 109 children with MCD were identified. There were 58 boys and 51 girls, age 8 days to 18 years at initial imaging (mean age, 5 years). Seizures were present in 75%, developmental delay or intellectual disability in 68%, abnormal neurologic findings in 48%, and congenital anomalies apart from the CNS malformation in 18%. The main malformations identified were heterotopic gray matter (19%), cortical tubers (17%), focal cortical dysplasia (16%), polymicrogyria (16%), agyria/pachygyria (15%), schizencephaly/cleft (5%), transmantle dysplasia (5%), and hemimegalencephaly (4%). Eight patients had features of more than one malformation. Most lesions were multilobar (47%), with the frontal lobe being the most common lobe involved (78%). A total of 68% of patients had other cerebral malformations including ventricular dilatation or dysmorphism (46%) and abnormalities of the corpus callosum (29%).
This study illustrates the spectrum of MCD in a pediatric cohort and highlights some of the differences between pediatric and adult patients. Patients with MCD presenting in childhood have a wider spectrum of malformations and more varied, often more severe, clinical manifestations. The lesions are frequently multifocal or generalized and many are associated with noncortical developmental brain anomalies.
确定转诊至一家三级儿科中心的儿童队列中发生的皮质发育畸形（MCD）的类型、相对频率、临床特征及磁共振成像（MRI）特征。
两名对临床细节不知情的研究人员对原始磁共振图像进行回顾，以确定每种畸形的基本成像特征，并根据现有的分类系统对这些畸形进行标记。通过查阅医院记录收集临床信息。
共识别出109例患有MCD的儿童。其中男孩58例，女孩51例，初次成像时年龄为8天至18岁（平均年龄5岁）。75%的患儿有癫痫发作，68%有发育迟缓或智力残疾，48%有异常神经学表现，18%除中枢神经系统畸形外还有先天性异常。确定的主要畸形为灰质异位（19%）、皮质结节（17%）、局灶性皮质发育不良（16%）、多小脑回（16%）、无脑回/巨脑回（15%）、脑裂畸形/脑裂（5%）、跨脑叶发育异常（5%）和半侧巨脑症（4%）。8例患儿有不止一种畸形的特征。大多数病变为多叶性（47%），额叶是最常受累的脑叶（78%）。共有68%的患儿有其他脑畸形，包括脑室扩张或形态异常（46%）和胼胝体异常（29%）。
本研究阐述了儿科队列中MCD的范围，并突出了儿科和成年患者之间的一些差异。儿童期出现的MCD患者有更广泛的畸形范围和更多样化、通常更严重的临床表现。病变常为多灶性或全身性，许多与非皮质发育性脑异常相关。
