目的 探讨新生儿甲基丙二酸尿症的临床特征,减少误诊误治.方法 回顾性分析新生儿甲基丙二酸尿症误诊为骨髓增生异常综合征1例的临床资料,并复习相关文献.结果 本例因面色苍白、喂养困难17 d入院.多次查血常规均示三系不同程度减少,骨髓穿刺细胞学检查考虑骨髓增生异常综合征-难治性贫血伴原始细胞增多,予输注红细胞、血小板等治疗,症状无明显缓解.进一步行尿质谱分析、血串联质谱检测,确诊为甲基丙二酸尿症并同型半胱氨酸血症,予维生素B12、左卡尼汀、亚叶酸钙、甜菜碱等治疗,20 d后症状好转出院.随访6个月,临床症状完全消失,智力、运动发育良好,血常规、头颅MRI及视频脑电图均正常.结论 临床接诊不明原因或治疗效果欠佳的血液系统疾病的患儿,应注意神经系统体征检查,及时行血串联质谱检测及尿质谱分析,争取早期确诊,避免误漏诊.%Objective To discuss clinical characteristics of neonate with methylmalonic aciduria in order to avoid misdiagnosis and mistreatment.Methods Clinical data of 1 neonate with methylmalonic aciduria, who was misdiagnosed as having myelodysplastic syndrome (MDS), was retrospectively analyzed, and related literature was reviewed.Results The neonate was admitted for pale and difficult feeding for 17 days.Repeated examinations of routine blood showed pancytopenia.Bone marrow aspiration cytological examination showed myelodysplastic syndrome-refractory anemia with excessive blasts (MDS-RAEB) phase, but no significant symptomatic remission was found by infusion of red blood cells and platelets.Methylmalonic aciduria combined with homocysteinemia was confirmed by further examinations of uric mass chromatographic analysis and blood MS-MS.Vitamin B12, Levocarnitine, calcium folinate and betaine treatments were given, and the neonate was discharged 20 days later after the condition improvement.During 6 months of follow-up period, clinical symptoms disappeared completely, and intelligence and motor development were good, and results of routine blood test, head nuclear magnetic resonance and video EEG were normal.Conclusion Children with hematological diseases of unknown causes or poor therapeutic effects should be paid attention to the result of nervous system signs and given blood MS-MS examination and uric mass chromatographic analysis in time in order to confirm diagnosis in early period to avoid misdiagnose or missed diagnosis.
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