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目的通过3例以惊厥发作为首发症状的甲基丙二酸血症(methylmalonic acidemia,MMA)患儿临床特点及生化指标的分析,以期提高儿科医生对惊厥、代谢性酸中毒与遗传代谢性疾病关系的认识。方法对2011年10月至2012年12月青岛妇女儿童医院儿科住院经气相色谱-质谱分析法(gaschromatography-mass spectrometry,GC-MS)确诊的3例以惊厥发作为首发症状的MMA患儿进行临床资料、辅助检查及血、尿生化结果分析。结果 (1)3例患儿尿液中甲基丙二酸均异常增高。(2)3例患儿除惊厥发作外,合并其他神经系统受损表现包括:智力运动发育落后或倒退1例、发作性嗜睡1例、反复呕吐1例。惊厥首次发作年龄为生后5月至11月,发作类型包括部分性发作1例、全面强直阵挛发作1例、强直发作1例。(3)头颅MRI检查显示脑萎缩1例,双侧基底节病变2例。结论惊厥发作是MMA的常见症状,对不明原因代谢性酸中毒、惊厥发作的患儿应进行尿有机酸气相色谱-质谱分析,以早期明确病因诊断。
Objective To analyze the clinical characteristics and biochemical indexes of 3 children with methylmalonic acidemia (MMA) who have seizures as the first symptom, in order to improve the effect of pediatricians on convulsion, metabolic acidosis and genetic metabolic diseases Awareness of the relationship. Methods Three children with MFA who had seizures as the first symptom were diagnosed by gaschromatography-mass spectrometry (GC-MS) in pediatric hospital of Qingdao Women’s and Children’s Hospital from October 2011 to December 2012. Data, auxiliary examination and analysis of blood and urine biochemical results. Results (1) Methylmalonic acid was abnormally elevated in all three cases of children. (2) In addition to seizures, 3 cases of children with other neurological damage include: 1 case of backward or backward intellectual motor development, 1 case of paroxysmal somnolence and 1 case of repeated vomiting. The first episode of seizure was from May to November after birth. The types of seizures included partial seizure in 1 case, comprehensive tonic clonic seizure in 1 case and tonic seizure in 1 case. (3) Head MRI examination showed 1 case of brain atrophy and 2 cases of bilateral basal ganglia lesions. Conclusions Convulsive seizures are common symptoms of MMA. Urinary organic acids should be analyzed by gas chromatography-mass spectrometry in patients with unexplained metabolic acidosis and seizures.