APLASIA OF THE RETINAL-VESSELS COMBINED WITH OPTIC-NERVE HYPOPLASIA, NEONATAL EPILEPTIC SEIZURES, AND LACTIC-ACIDOSIS DUE TO MITOCHONDRIAL COMPLEX-I DEFICIENCY

被引：9

作者：

BOOR, R ^{[1
]}

ROCHELS, R ^{[1
]}

WALTHER, B ^{[1
]}

REITTER, B ^{[1
]}

机构：

[1] UNIV KIEL,OPHTHALMOL ABT,W-2300 KIEL 1,GERMANY

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1992年 / 151卷 / 07期

关键词：

MITOCHONDRIA; NADH DEHYDROGENASE; RETINAL VESSELS; OPTIC NERVE; SEIZURES; NEWBORN;

D O I：

10.1007/BF01957758

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A newborn male with mitochondrial complex I deficiency suffered from neonatal epileptic seizures, which later developed into infantile spasms. The infant was blind due to aplasia of the retinal vessels and hypoplasia of the optic nerve. There was congenital lactic acidosis, which persisted in later life. The boy was microcephalic and retarded. Muscular hypotonia later shifted to spasticity. Succinic acid was increased in urine. We assume that the aplasia of the retinal vessels is due to damage of the retinal ganglion cells caused by the mitochondrial disease in the first 3 to 4 months of pregnancy.

引用

页码：519 / 521

页数：3

共 20 条

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