title: MTHFR homozygous mutation and additional risk factors for cerebral infarction in a large Italian family.
abstract: Several cases with cerebral infarctions associated with the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) have been reported. Given the large number of asymptomatic individuals with the MTHFR mutation, additional risk factors for cerebral infarction should be considered. This study describes a large family with the MTHFR mutation and a combination of heterozygous factor V Leiden mutations and different additional exogenous and endogenous thrombogenic risk factors. Psychomotor retardation and a left fronto-insular infarct associated with the MTHFR mutation together with diminished factor VII and low level of protein C was documented in the first patient. In the second patient, generalized epilepsy and a malacic area in the right nucleus lenticularis was associated with the MTHFR mutation and a low level of protein C. In the third patient, right hemiparesis and a left fronto-temporal porencephalic cyst were documented, together with the MTHFR mutation and hyperhomocysteinemia. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of infants with cerebral infarctions associated with the MTHFR mutation and of their related family members.
authors.affiliation: Division of Child Neurology, Department of Pediatrics, University "La Sapienza", Rome.
authors.forename: Francesca
authors.initials: F
authors.lastname: Del Balzo
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
authors.forename: Massimo
authors.initials: M
authors.lastname: Perla
authors.forename: Enrico
authors.initials: E
authors.lastname: Properzi
authors.forename: Paola
authors.initials: P
authors.lastname: Iannetti
mesh_terms: D002544:Cerebral Infarction / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D004827:Epilepsy / Q000209:etiology / Q000503:physiopathology; D005167:Factor VII / Q000378:metabolism*; D005190:Family; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D010291:Paresis / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D011486:Protein C / Q000378:metabolism*; D012307:Risk Factors; D020530:Subthalamus / Q000473:pathology; D013702:Temporal Lobe / Q000473:pathology
chemical_list: D011486:Protein C; D005167:Factor VII; D042965:Methylenetetrahydrofolate Reductase (NADPH2)