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.