title: Ischemic stroke in a 7-month-old infant with antiphospholipid antibody and homozygous C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism.
abstract: Prothrombotic risk factors in children with ischemic stroke have been increasingly recognized with recent developments in technology. Extensive evaluation including a detailed family history is required to identify various inherited or acquired prothrombotic conditions. We report a 7-month-old male who presented with right hemiparesis. Acute cerebral infarction in the area supplied by the left lenticulostriate artery was confirmed through magnetic resonance imaging. De novo synthesis of antiphospholipid antibodies and homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism were identified as presumed prothrombotic risk factors. His twin sister and mother were also positive for antiphospholipid antibodies. Multiple risk factors for ischemic stroke should be considered, particularly in the perinatal and infancy period. This case also underlines the rare familial occurrence of antiphospholipid antibodies and its relationship to ischemic stroke in infancy.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Se Hee
authors.initials: SH
authors.lastname: Kim
authors.forename: Hee
authors.initials: H
authors.lastname: Hwang
authors.forename: Jong Hee
authors.initials: JH
authors.lastname: Chae
authors.forename: Ki Joong
authors.initials: KJ
authors.lastname: Kim
authors.forename: Yong Seung
authors.initials: YS
authors.lastname: Hwang
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
mesh_terms: D000328:Adult; D017152:Antibodies, Antiphospholipid / Q000032:analysis / Q000097:blood*; D016736:Antiphospholipid Syndrome / Q000235:genetics / Q000503:physiopathology; D002545:Brain Ischemia / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D010291:Paresis / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D020521:Stroke / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology
chemical_list: D017152:Antibodies, Antiphospholipid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)