Ishii Kiyoko, Komaki Hirofumi, Ohkuma Aya, Nishino Ichizo, Nonaka Ikuya, Sasaki Masayuki
Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.
Brain Dev. 2010 Sep;32(8):669-72. doi: 10.1016/j.braindev.2009.08.008. Epub 2009 Sep 26.
We report an adolescent case of late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by intermittent nausea and depressive state as early symptoms. At the age of 12 years and 11 months, the patient experienced intermittent nausea and vomiting, and depressive state. She was on medication for depression for 5 months but it was ineffective. Brain magnetic resonance imaging showed disseminated high-intensity areas in the periventricular white matter and in the splenium of the corpus callosum on T2-weighted images and fluid-attenuated inversion-recovery images. Progressive muscle weakness occurred and blood creatine kinase level was found to be elevated. The muscle biopsy revealed lipid storage myopathy. Urine organic acid analysis and mutation analysis of the ETFDH gene confirmed the diagnosis of MADD. With oral supplements of riboflavin and l-carnitine, in addition to a high-calorie and reduced-fat diet, her clinical symptoms improved dramatically. Early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.
我们报告一例青少年迟发性核黄素反应性多种酰基辅酶A脱氢酶缺乏症（MADD），早期症状为间歇性恶心和抑郁状态。患者12岁11个月时出现间歇性恶心、呕吐及抑郁状态。她接受了5个月的抗抑郁药物治疗，但无效。脑磁共振成像在T2加权像和液体衰减反转恢复像上显示脑室周围白质及胼胝体压部有散在的高信号区。随后出现进行性肌肉无力，血液肌酸激酶水平升高。肌肉活检显示脂质贮积性肌病。尿有机酸分析及ETFDH基因突变分析确诊为MADD。通过口服核黄素和左卡尼汀补充剂，以及高热量、低脂饮食，她的临床症状显著改善。早期诊断很重要，因为核黄素治疗对大量MADD患者有效。
