Pascual Castroviejo I, Pascual Pascual S I, Via o J, Martinez V, Palencia R
Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, España.
Rev Neurol. 2003;37(4):327-44.
To show the disorders of the brain cortical development and the possible origin in base to a large series studied in a Pediatric Neurology service.
A series of 144 children with ages ranging between newborn and 12 years was studied from the clinic, image (MR, 3DMR) and evolutive point of views.
The diagnosis was: polymicrogyria in 61 cases, lissencephaly in 22, eschizencephaly in 16, heterotopia in 16, cortical dysplasia in 9, hemimegalencephaly in 8, cobblestone in 7, sublobar dysplasia in 3, and 'double cortex' in 2. Mental retardation, motor disorders and epilepsy were the most important anomalies.
Actually, the image is the most important study to make the diagnosis of every type of cerebral malformation. However, to know the specific gene that origin every disorder seems to be the most important thing to make the classification of every malformative type and the possible prevention of this pathology.
基于在儿科神经科服务机构研究的大量病例,展示大脑皮质发育障碍及其可能的起源。
从临床、影像(磁共振成像、三维磁共振成像)和病程发展的角度,对一系列144名年龄在新生儿至12岁之间的儿童进行了研究。
诊断结果为:61例多小脑回畸形,22例无脑回畸形,16例脑裂畸形,16例异位症,9例皮质发育异常,8例半侧巨脑症,7例鹅卵石样病变,3例叶下发育异常,2例“双皮质”。智力迟钝、运动障碍和癫痫是最重要的异常情况。
实际上,影像检查是诊断各类脑畸形的最重要研究手段。然而,了解引发每种疾病的特定基因似乎是对每种畸形类型进行分类以及可能预防这种病理状况的最重要事情。