Kurlemann G, Paetzke I, Möller H, Masur H, Schuierer G, Weglage J, Koch H G
Children's Hospital, Albert-Schweitzer-Strasse, Münster, Germany.
Eur J Pediatr. 1995 Nov;154(11):928-32. doi: 10.1007/BF01957508.
A therapeutic trial with polyvitamins and dichloroacetate (DCA) in combination with thiamine in a 13-year-old girl with complex I deficiency is reported. The polyvitamin therapy included thiamine, riboflavin, ascorbate, coenzyme Q 10 and carnitine. This therapeutic regine was used over a period of 17 months without any effect. Although DCA lowered the lactate concentration in blood and CNS--measured by magnetic resonance spectroscopy--no clinical benefit was achieved. After 20 weeks of DCA therapy a distal polyneuropathy with areflexia developed although 100 mg thiamine daily as comedication was given from the beginning of DCA therapy. Nerve conduction velocity of the peroneal nerve was not detectable, sensible evoked potentials of the tibialis posterious nerve were normal. This side-effect resolved completely within 6 months after omission of DCA. Our observation suggests a direct toxic effect of DCA only on the peripheral nervous system in our patient since several cerebral MRI and magnetic resonance spectroscopy studies showed no abnormalities. CONCLUSION. DCA lowers the lactate concentration in children with complex I deficiency of the respiratory chain in a dose of 100 mg/kg body weight without clinical benefit. Reversible peripheral polyneuropathy may develop under DCA therapy despite thiamine medication.
报道了对一名患有复合体I缺乏症的13岁女孩进行多种维生素、二氯乙酸（DCA）联合硫胺素的治疗试验。多种维生素疗法包括硫胺素、核黄素、抗坏血酸、辅酶Q10和肉碱。这种治疗方案使用了17个月，没有任何效果。尽管通过磁共振波谱法测量，DCA降低了血液和中枢神经系统中的乳酸浓度，但未获得临床益处。在DCA治疗20周后，尽管从DCA治疗开始就每日联合使用100毫克硫胺素，但仍出现了伴有反射消失的远端多发性神经病。腓总神经的神经传导速度无法检测到，胫后神经的感觉诱发电位正常。停用DCA后，这种副作用在6个月内完全消失。我们的观察表明，DCA仅对我们患者的周围神经系统有直接毒性作用，因为多项脑部MRI和磁共振波谱研究均未显示异常。结论：对于患有呼吸链复合体I缺乏症的儿童，剂量为100毫克/千克体重的DCA可降低乳酸浓度，但无临床益处。尽管使用了硫胺素药物，DCA治疗仍可能导致可逆性周围多发性神经病。
