GLYCINE ENCEPHALOPATHY
GLYCINE ENCEPHALOPATHY
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DOI：
10.1055/s-0028-1085326
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发表时间：
1979-01-01
期刊：
影响因子：
--
通讯作者：
PLOUIN, P
中科院分区：
文献类型：
--
作者：
DALLABERNARDINA, B;AICARDI, J;PLOUIN, P
本文介绍了 4 例非酮性高甘氨酸血症（甘氨酸脑病）病例，其中 1 例进行了尸检，并对 61 例病例的文献进行了回顾。主要临床症状包括早期肌张力减退、嗜睡、不稳定和大量肌阵挛，并伴有呼吸障碍，在无症状间隔后的最初几天开始出现。早逝很常见。幸存者严重发育迟缓，并表现出各种类型的癫痫发作，包括婴儿痉挛症。脑电图模式最初由几乎平坦的描迹上的周期性阵发性爆发组成，后来演变为高度节律失常模式。有髓鞘通路的海绵组织变性是主要的病理发现。脑脊液甘氨酸升高似乎是神经系统紊乱的重要决定因素，因此建议使用术语甘氨酸脑病代替非酮症高甘氨酸血症。提出了与高血糖症相关的疾病的分类。
4 cases of nonketotic hyperglycinemia (glycine encephalopathy), one with autopsy, are presented and the literature on 61 cases is reviewed. Major clinical signs include early hypotonia, lethargy and erratic and massive myoclonias with respiratory disturbances, starting during the first days of life after a symptom-free interval. Early death is common. Survivors are severely retarded and exhibit various types of seizures including infantile spasms. The EEG pattern consists initially of periodical paroxysmal bursts on an almost flat tracing, evolving later into a hypsarrhythmic pattern. Spongiosis of the myelinated pathways is the main pathological finding. Elevated CSF glycine seems to be the essential determinant of the neurological disturbances and it is, therefore, suggested that the term glycine encephalopathy be used instead of non-ketotic hyperglycinemia. A classification of disorders associated with hyperglycinemia is proposed.