Children's Neuroscience Centre, Royal Children's Hospital, Flemington Road, Parkville, Melbourne 3052, Australia.
Brain. 2010 May;133(Pt 5):1415-27. doi: 10.1093/brain/awq078. Epub 2010 Apr 19.
Polymicrogyria is one of the most common malformations of cortical development and is associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor dysfunction and speech disturbance. It has heterogeneous clinical manifestations and imaging patterns, yet large cohort data defining the clinical and imaging spectrum and the relative frequencies of each subtype are lacking. The aims of this study were to determine the types and relative frequencies of different polymicrogyria patterns, define the spectrum of their clinical and imaging features and assess for clinical/imaging correlations. We studied the imaging features of 328 patients referred from six centres, with detailed clinical data available for 183 patients. The ascertainment base was wide, including referral from paediatricians, geneticists and neurologists. The main patterns of polymicrogyria were perisylvian (61%), generalized (13%), frontal (5%) and parasagittal parieto-occipital (3%), and in 11% there was associated periventricular grey matter heterotopia. Each of the above patterns was further divided into subtypes based on distinguishing imaging characteristics. The remaining 7% were comprised of a number of rare patterns, many not described previously. The most common clinical sequelae were epileptic seizures (78%), global developmental delay (70%), spasticity (51%) and microcephaly (50%). Many patients presented with neurological or developmental abnormalities prior to the onset of epilepsy. Patients with more extensive patterns of polymicrogyria presented at an earlier age and with more severe sequelae than those with restricted or unilateral forms. The median age at presentation for the entire cohort was 4 months with 38% presenting in either the antenatal or neonatal periods. There were no significant differences between the prevalence of epilepsy for each polymicrogyria pattern, however patients with generalized and bilateral forms had a lower age at seizure onset. There was significant skewing towards males with a ratio of 3:2. This study expands our understanding of the spectrum of clinical and imaging features of polymicrogyria. Progression from describing imaging patterns to defining anatomoclinical syndromes will improve the accuracy of prognostic counselling and will aid identification of the aetiologies of polymicrogyria, including genetic causes.
脑回轻度畸形是最常见的皮质发育畸形之一，与多种临床后遗症有关，包括癫痫、智力障碍、运动功能障碍和言语障碍。它具有异质性的临床表现和影像学模式，但缺乏定义其临床和影像学谱以及各亚型相对频率的大样本数据。本研究旨在确定不同脑回轻度畸形类型和相对频率，定义其临床表现和影像学特征谱，并评估临床/影像学相关性。我们研究了来自六个中心的 328 名患者的影像学特征，其中 183 名患者提供了详细的临床数据。确定基础广泛，包括儿科医生、遗传学家和神经科医生的转诊。主要的脑回轻度畸形模式为额侧（5%）和顶枕旁矢状旁（3%）。每种模式进一步根据其影像学特征分为亚型。其余 7%由多种罕见模式组成，其中许多以前没有描述过。最常见的临床后遗症是癫痫发作（78%）、全面发育迟缓（70%）、痉挛（51%）和小头畸形（50%）。许多患者在癫痫发作前就出现了神经或发育异常。具有更广泛脑回轻度畸形的患者比具有局限性或单侧形式的患者更早出现且后遗症更严重。整个队列的中位发病年龄为 4 个月，其中 38%在产前或新生儿期发病。各脑回轻度畸形类型的癫痫患病率无显著差异，但广泛性和双侧性脑回轻度畸形患者癫痫发作的年龄较小。男性明显偏多，比例为 3:2。本研究扩展了我们对脑回轻度畸形临床和影像学特征谱的理解。从描述影像学模式到定义解剖-临床综合征的进展将提高预后咨询的准确性，并有助于确定脑回轻度畸形的病因，包括遗传原因。
