Multiple Neural Tube Defects: A Case Report

Patient: Female, newborn Final Diagnosis: Mutiple neural tube defects Symptoms: Head and neck mass • neck mass Medication:— Clinical Procedure: Staged repair of neural tube defects • V-P shunt for congenital hedrocephalus Specialty: Neurosurgery OBJECTIVE: Congenital defects/diseases BACKGROUND: Incomplete closure of the neural tube results in congenital anomalies called neural tube defects (NTD). These defects are rarely multiple, and are characterized by loss of central nervous system soft tissue and bony coverings, along with herniation of the involved part of the CNS through the defect. CASE REPORT: A newborn female infant was delivered through planned cesarean section due to large occipital encephalocele diagnosed antenatally. The pregnancy was unplanned and the mother did not take folic acid prior to conception. Birth weight was 3.41 Kg. Upon delivery, the newborn was healthy, with an Apgar score of 8. The physical examination revealed 2 large pouches; one was over the occiput, and the other swelling was located over the nape of the neck. Brain MRI revealed large occipital encephalocele and cervical myelomeningocele. The 2 defects were repaired separately, with an uneventful postoperative course. CONCLUSIONS: We report the rare occurrence of multiple NTD. Early repair, either as single or multiple procedures, is mandatory to avoid dramatic complications.