30 April 2020 : Case report
Challenging differential diagnosis, Unusual setting of medical care, Rare disease, Congenital defects / diseases, Rare coexistence of disease or pathologyMohammad Ahmad Jamous1AE*, Suleiman Shaheer Daoud1BE, Abdullah Mohammad Abu-Aqoulah2DF
Am J Case Rep 2020; 21:e922312
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.
Keywords: Encephalocele, Meningomyelocele, Neural Tube Defects, Infant, Newborn
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