Aikoh H, Sasaki M, Sugai K, Yoshida H, Sakuragawa N
Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Brain Dev. 1997 Nov;19(7):502-5. doi: 10.1016/s0387-7604(97)00059-4.
We report on a patient with methylmalonic acidemia (MMA). He experienced a metabolic acidosis attack at 3 weeks of age. He immediately received peritoneal dialysis and exchange transfusion, and recovered from the attack. His MMA phenotype was mut0. Dietary therapy (strict protein restriction) was found to be effective in preventing further attacks, and he had mild hypotonia and impaired psychomotor development. At 9 months of age, he developed brief tonic seizures, which showed polyspike bursts under EEG. His psychomotor development continued to deteriorate. However, intravenous administration of immunoglobulin (200 mg/kg/day for 5 consecutive days) had a dramatic effect; his seizures disappeared and his psychomotor development improved.
我们报告了一名患有甲基丙二酸血症（MMA）的患者。他在3周龄时经历了一次代谢性酸中毒发作。他立即接受了腹膜透析和换血治疗，并从发作中康复。他的MMA表型为mut0。发现饮食疗法（严格限制蛋白质摄入）对预防进一步发作有效，他有轻度肌张力低下和精神运动发育受损。在9个月大时，他出现了短暂的强直性发作，脑电图显示多棘波爆发。他的精神运动发育继续恶化。然而，静脉注射免疫球蛋白（连续5天，每天200mg/kg）产生了显著效果；他的癫痫发作消失，精神运动发育得到改善。
