Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
Reversal of brain atrophy with biotin treatment in biotinidase deficiency.
复制标题
生物素酶缺乏症中生物素治疗可逆转脑萎缩。
DOI：
10.1055/s-2008-1071543
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发表时间：
1993
期刊：
影响因子：
1.4
通讯作者：
Wolf,B
中科院分区：
文献类型：
--
作者：
Bousounis,DP;Camfield,PR;Wolf,B
两名儿童与生物素酶缺乏症在2个月大的癫痫发作。第一个孩子有一个波动的过程与持续的发展进步和停止癫痫发作，尽管症状的慢性神经功能障碍，直到他被诊断为17个月。第二个孩子有一个渐进的过程与不受控制的癫痫发作导致反应迟钝的状态，直到她被诊断为6 1/2个月。直到诊断前不久，两个孩子都没有皮肤病症状。两名儿童在生物素治疗后均明显改善。对大脑的连续CT扫描和MRI研究显示出明显的变化模式。初次就诊后不久，观察到白色物质弥漫性低密度，随后出现进行性明显脑萎缩，生物素治疗后逆转。由于这是一种可逆性疾病，临床医生应在所有有慢性神经功能障碍症状的儿童中筛查生物素酶缺乏症，特别是当放射学发现白色物质低衰减伴脑萎缩时。
Two children with biotinidase deficiency presented with seizures at 2 months of age. The first child had a fluctuating course with continual developmental progress and cessation of seizures despite symptoms of chronic neurologic dysfunction until he was diagnosed at 17 months. The second child had a progressive course with uncontrolled seizures leading to an unresponsive state until she was diagnosed at 6 1/2 months. Neither child had dermatologic symptoms until shortly before the time of diagnosis. Both children improved markedly with biotin treatment. Serial CT-scan and MRI studies of the brain showed a distinct pattern of changes. Shortly after initial presentation, diffuse low attenuation of the white matter was seen followed by progressive marked cerebral atrophy, which was reversed following biotin treatment. Because this is a reversible condition, clinicians should screen for biotinidase deficiency in all children with symptoms of chronic neurologic dysfunction, especially when radiologic findings of low attenuation of the white matter are followed by cerebral atrophy.