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Analysis of Causative Factor Contributing to Reccurent Neural Tube Defects : A Case Report

Margaretha Claudhya Febryanna

Neural tube defects (NTD) become a concern in developing countries, with rare recurrence risk 2-5%. Folate and cyanocobalamine deficiencies are the common cause of NTD , while other cause are MTHFR enzyme mutation and the presence of Maternal Serum Folate Reseptor Auto-antibodies.; Case Description: A multigravida (GIV P3001), 35 year old mother having anencephalic babies on second and fourth pregnancy with was examined at antenatal clinic Dr. Soetomo Hospital. She was tested negative for TORCH, Ultrasound examination revealed positive Frog sign, cerebellum located outside cranial lobe with cervical spine defect to upper femoral region. Termination of pregnancy was performed, a female 300 gram stillbirth baby was delivered. Open upper cranium was observed with intact brain structure and non closure of cervical spine. After postpartum period, maternal serum folate and cobalamin level were observed within normal values.  Maternal serum homocysteine levels was also observed. MTHFR enzyme has a critical role at converting methylentetrahydrofolate to active tetrahydrofolate, and converting homocysteine serum to methionone used for protein synthesis.