Longman Cheryl, Mercuri Eugenio, Cowan Frances, Allsop Joanna, Brockington Martin, Jimenez-Mallebrera Cecilia, Kumar Sailesh, Rutherford Mary, Toda Tatsushi, Muntoni Francesco
Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, England.
Arch Neurol. 2004 Aug;61(8):1301-6. doi: 10.1001/archneur.61.8.1301.
Muscle-eye-brain disease (MEB) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities, and type II lissencephaly. Previous reports of brain abnormalities on magnetic resonance images (MRIs) in MEB have been in children older than 1 year.
To describe serial antenatal and postnatal brain MRIs in a child with MEB.
Case report.
We report a 2-year-old white boy with genetically confirmed MEB. Antenatal MRIs at 25 and 35 weeks' gestation showed posterior ventriculomegaly but no cortical dysplasia. A postnatal brain MRI at age 1 week showed frontal cortical dysplasia and abnormal signal intensity within the frontal white matter. A brain MRI at 8 months showed bilateral frontoparietal polymicrogyria. All images demonstrated flattening of the pons and mild hypoplasia of the inferior vermis. The child had no weakness, and muscle involvement was only suspected when the serum creatine kinase level was found to be elevated at age 8 months.
Cortical dysplasia in MEB may not be evident until several postnatal months; therefore, if MEB is suspected, brain MRI performed in the first few months of life should be interpreted with caution.
肌肉-眼-脑疾病（MEB）是一种罕见的常染色体隐性疾病，其特征为先天性肌营养不良、眼部结构异常和II型无脑回畸形。先前关于MEB患者磁共振成像（MRI）脑部异常的报道均为1岁以上儿童。
描述1例MEB患儿的系列产前和产后脑部MRI表现。
病例报告。
我们报告1例经基因确诊的2岁白人男孩患MEB。妊娠25周和35周时的产前MRI显示脑室后角扩大，但无皮质发育异常。出生1周时的脑部MRI显示额叶皮质发育异常以及额叶白质内信号强度异常。8个月时的脑部MRI显示双侧额顶叶多小脑回畸形。所有图像均显示脑桥变平以及小脑蚓部下轻度发育不全。该患儿无肌无力表现，直到8个月龄时发现血清肌酸激酶水平升高才怀疑有肌肉受累。
MEB中的皮质发育异常可能在出生后数月才会明显；因此，如果怀疑MEB，在生命最初几个月进行的脑部MRI检查结果应谨慎解读。
