Misdiagnosed Neonate with Methylmalonic Aciduria: a Case Report and Literature Review
HU Xiao-ming
LI li
LI Xiao-meng
LI Tie-geng
KANG li-min
LI Chi
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.
Keywords：Methylmalonic aciduriaNeonateMisdiagnosisMyelodysplastic syndromes
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 23-26 )