Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.
复制标题
DOI：
10.1186/s12883-015-0380-7
复制
发表时间：
2015-07-24
期刊：
影响因子：
2.6
通讯作者：
Hong D
中科院分区：
文献类型：
--
作者：
Peng Y;Zhu M;Zheng J;Zhu Y;Li X;Wei C;Hong D
晚发型多发性酰基辅酶A脱氢酶缺乏症（MADD）是一种常染色体隐性遗传的代谢功能障碍性疾病，临床特征为波动性近端肌无力、运动不耐受和显著的核黄素反应性。在一些迟发性MADD的重症患者中偶尔会观察到头下垂综合征;然而，在迟发性MADD患者中尚未报告脊柱弯曲综合征作为首发症状。一名46岁的男子失去了保持躯干直立的能力，抬头困难，但他没有明显的肢体无力症状。与此同时，他的四肢和嘴唇周围出现持续性麻木。肌病理学特征和多种酰基肉毒碱的联合升高表明轴性肌病可能由脂质沉积性肌病引起。颈、腰骶部MRI显示大量异常信号沿沿着椎旁肌扩散，核黄素治疗后异常信号基本消失。神经传导检查表明患者患有主要的感觉神经病和轻度的运动神经病。肌肉病理学也没有表现出典型的神经源性变化，这与电生理结果一致。在ETFDH基因中发现了致病突变。我们报告了第一例迟发性MADD伴感觉神经病变，最初表现为脊柱弯曲综合征和头下垂综合征。
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease of metabolic dysfunction clinically characterized by fluctuating proximal muscle weakness, excise intolerance, and dramatic riboflavin responsiveness. Dropped head syndrome can occasionally be observed in some severe patients with late-onset MADD; however, bent spine syndrome as an initial symptom had not been reported in patients with late-onset MADD. A 46-year-old man lost the ability to hold his trunk upright, and had difficulty in raising his head, but he had no obvious symptoms of limb weakness. Meanwhile, he developed persistent numbness of limbs and lips around. Myopathological features and combined elevation of multiple acylcarnitines indicated that the axial myopathy might be caused by lipid storage myopathy. Cervical and lumbosacral MRI revealed a lot of abnormal signals diffusing along paravertebral muscles, while the abnormal signals almost disappeared after riboflavin treatment. Nerve conduction study indicated the patient suffering from predominantly sensory neuropathy and mildly motor neuropathy. Muscle pathology also demonstrated no typical neurogenic change, which was consistent with the electrophysiological findings. Causative mutations were found in the ETFDH gene. We report the first case of late-onset MADD with sensory neuropathy initially manifesting as bent spine syndrome and dropped head syndrome.