Bijarnia-Mahay Sunita, Gupta Deepti, Shigematsu Yosuke, Yamaguchi Seiji, Saxena Renu, Verma I C
Institute of Medical Genetics and Genomics and $Department of Molecular Genetics, Sir Ganga Ram Hospital, New Delhi, India; *Department of Health Science, University of Fukui, Japan; and #Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan. Correspondence to: Dr Sunita Bijarnia-Mahay, Senior Consultant and Associate Professor, GRIPMER, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India.
Indian Pediatr. 2016 Oct 8;53(10):914-916. doi: 10.1007/s13312-016-0959-0.
Ethylmalonic encephalopathy is a rare inborn error of metabolism characterized by neurodevelopmental delay / regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea.
4-year-old boy with developmental regression, chronic diarrhea, petechial spots and acrocyanosis. MRI brain showed T2W/FLAIR hyperintensities in bilateral caudate and putamen. Abnormal acyl-carnitine profile and metabolites on urinary GC-MS analysis suggested the diagnosis.
Sequencing of ETHE1 gene revealed mutations: c.488G>A and c.375+5G>T (novel).
EE is clinically-recognizable disorder with typical clinical features.
乙基丙二酸脑病是一种罕见的先天性代谢紊乱疾病，其特征为神经发育迟缓/倒退、反复出现瘀点、直立性手足发绀和慢性腹泻。
一名4岁男孩，有发育倒退、慢性腹泻、瘀点和手足发绀症状。脑部MRI显示双侧尾状核和壳核T2加权/液体衰减反转恢复序列高信号。尿气相色谱-质谱分析中异常的酰基肉碱谱和代谢产物提示了诊断。
ETHE1基因测序显示存在突变：c.488G>A和c.375+5G>T（新发现）。
乙基丙二酸脑病是一种具有典型临床特征、临床上可识别的疾病。
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