临床误诊误治2017，Vol.30Issue(9)：23-26,4.DOI:10.3969/j.issn.1002-3429.2017.09.010
新生儿甲基丙二酸尿症一例误诊并文献复习
Misdiagnosed Neonate with Methylmalonic Aciduria: a Case Report and Literature Review
胡晓明 1李莉 1李晓萌 1李铁耕 1康利民 1李驰1
作者信息
- 1. 100020 北京,首都儿科研究所附属儿童医院新生儿内科
- 折叠
摘要
Abstract
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.关键词
甲基丙二酸尿症/新生儿/误诊/骨髓增生异常综合征Key words
Methylmalonic aciduria/Neonate/Misdiagnosis/Myelodysplastic syndromes分类
医药卫生引用本文复制引用
胡晓明,李莉,李晓萌,李铁耕,康利民,李驰..新生儿甲基丙二酸尿症一例误诊并文献复习[J].临床误诊误治,2017,30(9):23-26,4.
