Caudal regression syndrome: Postnatal radiological diagnosis with literature review of 83 cases

Abstract

Caudal regression syndrome (CRS) is a rare congenital disorder characterized by arrest of caudal spinal growth and associated with wide spectrum multisystemic anomalies. Herein, we presented a case of a newborn baby who did not pass meconium due to imperforated anus and was referred to the pediatric surgeon for urgent diverting loop colostomy. The conventional X-ray, abdominal ultrasound and abdominal pelvic magnetic resonance imaging (1.5 T) at 2-month-old age revealed right kidney agenesis, sacrococcygeal agenesis, vertebral bodies dysraphism and the spinal cord ends at D12-L1 with anterior and posterior bands of the terminating filaments. The diagnosis of CRS was confirmed. Through this case report, we hope to draw attention to this rare syndrome and the wide range of associated anomalies, also to consider this syndrome on the top of differential diagnosis list once the newborn has anorectal malformation mainly imperforated anus.

Keywords

• Caudal regression
• Sacral agenesis
• Anal atresia
• Imperforated anus
• VACTERL anomalies
• Genitourinary anomalies