新生儿短暂性非酮症高甘氨酸血症的神经后遗症。

Neurologic sequelae in transient nonketotic hyperglycinemia of the neonate.

作者信息

Eyskens F J, Van Doorn J W, Mariën P

机构信息

Department of Pediatrics, University Hospital of Antwerp, Belgium.

出版信息

J Pediatr. 1992 Oct;121(4):620-1. doi: 10.1016/s0022-3476(05)81158-8.

DOI:10.1016/s0022-3476(05)81158-8

PMID:1403401

Abstract

We report a neonate with the transient form of nonketotic hyperglycinemia manifested by extreme hypotonia, lethargy, apnea, and myoclonic and generalized convulsions in early neonatal life. Despite normalization of the biochemical values, severe neurologic sequelae were observed. This case suggests that the transient form of nonketotic hyperglycinemia sometimes causes severe brain damage.

摘要

我们报告了一名患有非酮症高甘氨酸血症短暂型的新生儿，其在新生儿早期表现为极度肌张力减退、嗜睡、呼吸暂停以及肌阵挛和全身性惊厥。尽管生化指标恢复正常，但仍观察到严重的神经后遗症。该病例提示，非酮症高甘氨酸血症短暂型有时会导致严重的脑损伤。