A Case of Caudal Regression Syndrome From Pakistan

Background: Caudal regression syndrome is a group of defects with incomplete development of the terminal vertebral column, with an incidence of 1 in 60,000 live births. Case presentation: A 12-year-old female presented with dull, cyclical suprapubic abdominal pain occurring every month for the past 4 years. She was operated on for an anorectal malformation at birth. On examination, she had a blind-ending vagina with labial hypoplasia. She was diagnosed with caudal regression syndrome Type I, based upon the author’s findings of left renal agenesis along with low-lying blind ending uterus and sacral hypoplasia. She underwent a hysterectomy with right-sided salpingectomy along with the creation of a neo-vagina using a segment of the sigmoid colon. She was discharged after an uneventful postoperative course. Conclusion: The condition is irreversible; however, repair and reconstruction of each systemic defect is warranted under a multidisciplinary team.