RESUMO
BACKGROUND: Stroke in pediatric age is a rare event with a multifactorial genesis which could involve genetic factors as methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphism. At the same time, twin gestation with co-twin demise is an important potential risk factor for premature brain damage. PATIENTS AND METHODS: We describe two children presenting with presumed cerebral stroke born from two MC twin pregnancies in which the other co-twin had died in utero associated to maternal and fetal homozygosity for MTHFR C677T and MTHFR A1298C, respectively. Brain damage was diagnosed immediately before the delivery. CONCLUSION: Our observations underline the necessity to make a thrombophilia workup in women before or during pregnancy and, above all, in twin pregnancy. Data of literature are not clear about what kind of genetic polymorphism is prominent in the genesis of cerebral stroke (factor V leiden, MTHFR, activated protein C resistance, factor II G20210A). A multifactorial genesis for severe fetal and perinatal cerebral vascular alterations has been supposed; for this reason an early folate supplementation both to mother and infant could reduce the risk of brain damage due to fetal/perinatal stroke and eventual recurrence of thrombotic events.
Assuntos
Doenças em Gêmeos/genética , Morte Fetal/genética , Predisposição Genética para Doença/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único , Complicações na Gravidez/genética , Acidente Vascular Cerebral/genética , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Acidente Vascular Cerebral/patologiaAssuntos
Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Dieta com Restrição de Proteínas , Isovaleril-CoA Desidrogenase/deficiência , Leucina/metabolismo , Cooperação do Paciente , Ácidos Pentanoicos/metabolismo , Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Criança , Hemiterpenos , Humanos , MasculinoRESUMO
STUDY DESIGN: We performed a cross-sectional study in myelomeningocele children. OBJECTIVE: To investigate plasma total homocysteine, folate, lipid profile, 5,10- metylenetetrahydrofolate reductase genotype (MTHFR) and disability. MATERIALS AND METHODS: Sixty patients aged between 2 and 14 years with myelomeningocele (18 ambulatory and 42 non-ambulatory) and 150 healthy children of same age, are investigated for lipid profile, homocysteine concentration and for the determination of MTHFR genotype. RESULTS: Plasma homocysteine concentrations were significantly higher in myelomeningocele children than in the control group. In myelomeningocele female group, there were higher levels of total cholesterol and very-low-density lipoprotein cholesterol with respect to the control group. Myelomeningocele children walking with tutorial aid showed triglyceride levels significantly lower than those observed in myelomeningocele non-walking children. CONCLUSION: Disability, insulin uptake, lipid, homocysteine, hormones plasma levels, and genetic factors such as allelic variants of MTHFR are possible for cardiovascular disease in myelomeningocele children. This study highlights the importance of a continuous surveillance of any changes in the lipid profile that should be corrected as soon as possible. Constant physical activity necessary to increase HDL levels should be planned in all susceptible children. Nonetheless, further investigations are necessary to identify new homocysteine susceptible genes for prevention of early atherosclerosis and consequent cardiovascular disease.
Assuntos
Crianças com Deficiência , Ácido Fólico/sangue , Homocisteína/sangue , Lipídeos/sangue , Meningomielocele , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Meningomielocele/sangue , Meningomielocele/genética , Meningomielocele/fisiopatologia , Mutação , Fatores SexuaisRESUMO
The authors sought to define the prevalence of Fabry disease and to establish the incidence and its natural history in Italy. The aim of this study was to point out the first clinical signs and symptoms to perform an early diagnosis and hence to start a specific therapeutic treatment. Fabry disease is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. Fabry disease is a severe X-linked disorder presenting with a higher morbidity between the third and the fourth decade of life. Fabry disease may be confused with other diseases or completely misdiagnosed: its frequency is estimated worldwide to be 1:117000. In Italy, 65 patients have been identified by several specialized institutions; age, sex, onset of first clinical signs and symptoms were analyzed and reported. In conclusion, this is the first Italian collaborative study that allows to delineate and point out the clinical signs of Fabry disease to perform a correct and early diagnosis. Enzyme replacement therapy is now available and its early beginning can prevent renal and cardiac failure, improve the quality of life and life expectancy in these patients.
