Ramaekers V T, Brab M, Rau G, Heimann G
Department of Pediatrics, Ophthalmology and Psychological Medicine-Technical University of Aachen, Germany.
Neuropediatrics. 1993 Apr;24(2):98-102. doi: 10.1055/s-2008-1071522.
A 15-year-old boy suffered from progressive bilateral optic neuropathy of acute onset at the age of 10 years. Subsequently he developed spastic paraparesis and a predominantly motor type neuro-axonal neuropathy in all limbs. The basic error has been elucidated to be due to an unusual biotinidase Km variant with biphasic enzyme kinetics causing systemic biotin depletion and consequent multiple biotin-dependent carboxylase deficiency. After daily oral substitution with 10 mg biotin metabolic derangements subsided rapidly. Follow-up studies over one year after substitution with biotin demonstrated remarkable recovery from part of the previously present neuro-ophthalmological, motor and cognitive deficits. The previously extinguished flash-evoked visual potentials now showed clear responses after six months of substitution with biotin. In contrast with reports in literature, these findings indicated that neurological damage associated with biotinidase deficiency, rather than being permanent, is to some extent reversible.
一名15岁男孩在10岁时患上急性起病的进行性双侧视神经病变。随后，他出现了痉挛性截瘫以及四肢以运动型为主的神经轴索性神经病。已阐明根本病因是一种异常的生物素酶Km变异体，其具有双相酶动力学，导致全身性生物素耗竭以及随之而来的多种生物素依赖性羧化酶缺乏。每日口服10毫克生物素后，代谢紊乱迅速消退。生物素替代治疗一年后的随访研究表明，先前存在的部分神经眼科、运动和认知缺陷有显著恢复。生物素替代治疗六个月后，先前消失的闪光视觉诱发电位现在显示出清晰的反应。与文献报道相反，这些发现表明，与生物素酶缺乏相关的神经损伤并非永久性的，在一定程度上是可逆的。
