Craniorachischisis in a 33-week-old Female Fetus: A Case Report

Abstract

We report the case of a 33-week-old female fetus born with craniorachischisis to a gravida 5, para 4 (3104) mother with no previous history of conceiving a child with a neural tube defect. Craniorachischisis is characterized by anencephaly and an open defect extending from the brain to the spine and is the most severe and fatal type of neural tube defect. Although the cause of neural tube defects is hypothesized to be multifactorial and is usually sporadic, the risk is increased in neonates born to mothers with a family history or a previous pregnancy with neural tube defect, both of which are not present in the index case. This case is unique in that only during the fifth pregnancy did the couple conceive a child with a neural tube defect, emphasizing that folic acid supplementation, the sole preventive measure proven to decrease the risk of neural tube defects, remains to be important in the periconceptual period for all women of childbearing age.

Keywords: autopsy; case report; congenital abnormalities; craniorachischisis; neural tube defects.

Figure 1

(A) Antero-left side view (B) Anterior view (C) Right side view: The fetus showed hyperextension cervicothoracic spine (▲) with a short neck, kyphoscoliosis, and an absence of breast buds. (D) Posterior view: This view demonstrates absence of the brain and cranial vault with a contiguous defect extending to the cervical spine exposing the underlying neural tissue (●) and a sacral dimple (★).

Figure 2

(A) Anteroposterior view (B) Lateral view radiographs showing acrania-anencephaly, vertebral segmentation defects, caudal neuropore defects, chondrodysplasia punctata, severe kyphoscoliosis, and marked swelling of the soft tissues.