Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl
Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl
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DOI：
10.1016/s0387-7604(97)86920-3
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发表时间：
1997-06-01
影响因子：
1.7
通讯作者：
Kodama, K
中科院分区：
文献类型：
--
作者：
Murayama, K;Kimura, M;Kodama, K
1例15岁女孩，临床诊断为脑性瘫痪，经气相色谱-质谱仪(GC/MS)分析和酶测定，确诊为3-甲基巴豆酰-辅酶A羧基酶(MCC)缺乏症。她的症状包括出生后明显的生长迟缓，严重的智力低下，强直性癫痫，强直性四肢瘫痪伴反张肌张力障碍，胃食道反流，食道蠕动不良，以及反复发作的吸入性肺炎。脑部核磁共振显示明显的脑萎缩，涉及灰质和白质。虽然她没有表现出急性代谢失调或急性脑病，但她的神经症状不断恶化。这名患者是报告的MCC缺乏症中年龄最大的，他在出生时就有症状，这一病例可能是这种先天代谢错误已知的最长自然病程中最严重的后遗症。(C)1997年爱思唯尔科学公司。
A 15-year-old girl with a former clinical diagnosis of cerebral palsy was found to have isolated deficiency of 3-methylcrotonyl-CoA carboxylase (MCC) on gas chromatography-mass spectrometry (GC/MS) analysis and enzyme determination. Her symptoms included marked growth retardation from birth, profound mental retardation, tonic seizures, rigospastic quadriplegia with opisthotonic dystonia, gastroesophageal reflux with poor esophageal peristalsis, and recurrent episodes of aspiration pneumonia. Brain MRI revealed marked brain atrophy, involving both the gray and white matter. Although she did not exhibit acute metabolic decompensation or acute encephalopathy, her neurological symptoms continuously worsened. This patient is the oldest among reported cases of MCC deficiency who had symptoms at birth, and this case may have the severest sequelae of the longest known natural course of this inborn error of metabolism. (C) 1997 Elsevier Science B.V.