A Complex VACTERL Related Malformation: Aganglionosis, Ileal-colonic Atresia, Recto-vestibular Fistula and Duplex Kidney in a Newborn

Aim of the study: To describe an unusual and challenging anorectal malformation.

Methods: Case report by review of records.

Main results: We report of a case of a female infant, born at 40 weeks gestation with a birth weight of 4.065 kg, and ileal atresia with absent ileum and colon down to the sigmoid, leaving 150 cm of small bowel. There was aganglionosis of the remaining microcolon, imperforate anus with recto-vestibular fistula and right duplex kidney. The kidney demonstrated upper pole hydronephrosis and an unusual blood supply prevented the planned heminephrectomy. Antenatal ultrasounds elsewhere at 11 and 20 weeks of gestation were reported to be normal. The child was not obviously otherwise dysmorphic. Management over the first ten years of life involved more than 30 anaesthetics, 49 hospital admissions, and 135 hospital contacts. Perhaps related to this, the patient developed selective mutism for a period.

Conclusion: Hirschsprung’s disease has been noted to be associated with a range of syndromic conditions. We propose that the underlying defect in this case is VACTERL related, with the distal aganglionosis secondary to the barrier to ganglion cell migration represented by the atresia which is sometimes associated with VACTERL. We note that the combination of pathologies in our patient has rarely if ever been previously described.

Management has been extremely challenging, but a degree of continence and stability has been achieved and with the patient now 12 years old, the family do not seem to regret their decision to ask for complete reconstruction.