运动减少和运动过度障碍是线粒体疾病的常见表型特征。据报道,特别是在线粒体脑病患者中,乳酸性酸中毒,中风样发作综合征和母系遗传性糖尿病和耳聋综合征。线粒体疾病中运动障碍的病理生理基础是基底神经节或中脑的参与。氟哌啶醇和线粒体混合物已被证明在其中一些情况下是有益的。在这里,我们介绍了另一名线粒体舞蹈症患者,他从对症治疗中受益匪浅。患者是一名14岁的男性,有听觉减退病史,上睑下垂,以及自幼以来两侧上肢/下肢的局灶性强直阵挛性癫痫发作。从此他也发展了偶尔,异常不自主的肢体运动,舞蹈主义,面部做鬼脸,脚踏痉挛,和异常的嘴唇感觉。在MT-CYB中检测到变异m.15043G>A后,他被诊断为非综合征性线粒体疾病。拉莫三嗪已成功治疗癫痫发作。用静脉钙剂治疗低钙血症。对于甲状旁腺功能减退,给予骨化三醇。用氟哌啶醇和丁苯那嗪治疗舞蹈症。此外,他接受了辅酶Q10左旋肉碱,硫胺素,核黄素,α-硫辛酸,生物素,维生素C,维生素E,和肌酸一水合物。有了这种疗法,舞蹈完全消失了。这个病例表明线粒体疾病可以表现为认知障碍,癫痫发作,运动障碍,hypoacusis,内分泌病,心肌病,神经病,和肌病,舞蹈障碍可能是多系统线粒体疾病的表型特征,编舞对氟哌啶醇反应良好,丁苯那嗪,可能是抗氧化剂的混合物,辅因子,和维生素。
Hypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloperidol and mitochondrial cocktails have proven beneficial in some of these cases. Here we present another patient with mitochondrial choreaballism who benefited significantly from symptomatic therapy. The patient is a 14-year-old male with a history of hypoacusis, ptosis, and focal tonic-clonic seizures of the upper/lower limbs on either side since childhood. Since this time he has also developed occasional, abnormal involuntary limb movements, choreaballism, facial grimacing, carpopedal spasms, and abnormal lip sensations. He was diagnosed with a non-syndromic mitochondrial disorder after detection of the variant m.15043G > A in MT-CYB. Seizures have been successfully treated with lamotrigine. Hypocalcemia was treated with intravenous calcium. For hypoparathyroidism calcitriol was given. Choreaballism was treated with haloperidol and tetrabenazine. In addition, he received coenzyme Q10, L-carnitine, thiamine, riboflavin, alpha-lipoic acid, biotin, vitamin-C, vitamin-E, and creatine-monohydrate. With this therapy, the choreaballism disappeared completely. This case shows that mitochondrial disorders can manifest with cognitive impairment, seizures, movement disorder, hypoacusis, endocrinopathy, cardiomyopathy, neuropathy, and myopathy, that choreaballism can be a phenotypic feature of multisystem mitochondrial disorders, and that choreaballism favorably responds to haloperidol, tetrabenazine, and possibly to a cocktail of antioxidants, cofactors, and vitamins.