ACUTE EXTRAPYRAMIDAL SYNDROME IN METHYLMALONIC ACIDEMIA - METABOLIC STROKE INVOLVING THE GLOBUS PALLIDUS
ACUTE EXTRAPYRAMIDAL SYNDROME IN METHYLMALONIC ACIDEMIA - METABOLIC STROKE INVOLVING THE GLOBUS PALLIDUS
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DOI：
10.1016/s0022-3476(88)80574-2
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发表时间：
1988-12-01
影响因子：
5.1
通讯作者：
BERRY, GT
中科院分区：
文献类型：
--
作者：
HEIDENREICH, R;NATOWICZ, M;BERRY, GT
我们报告四例甲基丙二酸血症患者，他们在代谢失代偿后发展为急性锥体外系疾病。神经学结果是由于双侧苍白球破坏，内囊不同程度受累所致。这种并发症与甲基丙二酸血症的特定基因缺陷无关，也与氰钴胺的应用无关。这些损害构成“代谢性中风”，可能是因为有毒有机酸代谢物的积累，因为它们不能用低氧血症或血管功能不全来解释。
We report four patients with methylmalonic acidemia who developed acute extrapyramidal disease after metabolic decompensation. The neurologic findings resulted from bilateral destruction of the globus pallidus with variable involvement of the internal capsules. This complication was unrelated to a specific gene defect responsible for methylmalonic acidemia or to cyanocobalamin administration. These lesions constitute a "metabolic stroke," probably because of the accumulation of toxic organic acid metabolites, because they cannot be accounted for by hypoxemia or vascular insufficiency.