3-Methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis
3-Methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis
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DOI：
10.1016/j.pediatrneurol.2006.09.007
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发表时间：
2007-02-01
影响因子：
3.8
通讯作者：
Holme, Elisabeth
中科院分区：
文献类型：
--
作者：
Darin, Niklas;Andersen, Oluf;Holme, Elisabeth
本报告描述了一例分离的3-甲基丁基辅酶a羧化酶缺乏症女性。她有轻微的雷氏发作，脱发，精神运动迟缓，以及注意力缺陷多动障碍。诊断是在13岁时做出的，当时她发展为复发缓解多发性硬化症，并伴有恶性病程。类固醇治疗最初对复发有良好的治疗效果。对β -la干扰素治疗反应较差。米托蒽醌治疗有相当大的神经功能恢复。(c) 2007年Elsevier Inc.版权所有。
This report describes a female with isolated 3-methylcrotonyl-CoA carboxylase deficiency. She had a mild Reye-like episode, loss of scalp hair, psychomotor retardation, and an attention-deficit hyperactivity disorder. The diagnosis was made at 13 years of age when she developed relapsing remitting multiple sclerosis with a malignant course. Treatment with steroids had initially a good therapeutic effect on the relapses. The response to interferon beta-la treatment was poor. On mitoxantrone treatment there was a considerable neurologic recovery. (c) 2007 by Elsevier Inc. All rights reserved.