Double site neural tube defects: report of two cases

Abstract Introduction Multiple-site neural tube defect is a congenital defect at two or more locations along the neural axis. Double-site neural defects are very rare, having a normal segment between two neural tube defects, and are different from complex spinal defects. Various theories have been proposed regarding the occurrence of these defects, including risk factors like folic acid deficiency, environmental factors and genetic factors. Recently, the most accepted theory is based on mechanochemical models, which propose the role of mechanical forces and cellular biomechanics in neural tube closure. The Sonic Hedgehog pathway and its disruption lead to defective neurulation and thus the formation of neural tube defects. Case presentation We received two patients with double-site neural tube defects. One patient was a 5-month-old child with unruptured swellings at the occipital region and lumbar spinal region. The second patient was a 16-day-old child with unruptured swelling in the occipital region and ruptured swelling in the dorsal spinal region. Operative technique In one case, the cranial defect was repaired, and the spinal defect, being small, was kept under observation and follow-up. Hydrocephalus was managed with a ventriculoperitoneal shunt. In the second case, both defects were primarily repaired with a pedicled flap closure for the large spinal defect. Conclusion Multiple-site neural tube defects are a very rare entity caused by defective neurulation during embryogenesis. The management is based on surgeons’ experience in handling cases requiring surgical intervention or observation.