Fletcher J M, Bye A M, Nayanar V, Wilcken B
Department of Genetics, Prince of Wales Children's Hospital, Randwick, Australia.
J Inherit Metab Dis. 1995;18(6):665-8. doi: 10.1007/BF02436754.
A 2-day-old infant with lethargy and hypoventilation had pachygyria and agenesis of the corpus callosum on CT scan. Increased concentrations of glycine in plasma and CSF, together with an increased CSF/plasma ratio, confirmed a clinical diagnosis of non-ketotic hyperglycinaemia. This is the first report of pachygyria in this disorder, although agenesis of the corpus callosum is well recognized, and non-specific gyral malformations have been described previously. The specific diagnosis of an inborn error of metabolism in infants with structural brain malformations is of critical importance for accurate genetic counseling.
一名2日龄出现嗜睡和通气不足的婴儿，CT扫描显示有巨脑回畸形和胼胝体发育不全。血浆和脑脊液中甘氨酸浓度升高，以及脑脊液/血浆比值升高，证实了非酮症高甘氨酸血症的临床诊断。这是该疾病中巨脑回畸形的首例报告，尽管胼胝体发育不全已广为人知，且此前已有非特异性脑回畸形的描述。对于有脑结构畸形的婴儿，准确诊断先天性代谢缺陷对于准确的遗传咨询至关重要。
