8-Month-Old Male Patient Born with Anorectal Malformation

• 8-mo-old male presents for evaluation. He was born with anorectal malformation s/p colostomy at birth. Baby presented with fever for 6 d, abdominal distension, bilious emesis, and no colostomy output for 3 d.
• On examination, the patient was malnourished, pale, and dehydrated. Baby had significant abdominal distension with tenderness of the left lower abdomen.
• A general surgeon performed a loop colostomy.
• Baby had perineal hypospadias and bilateral cryptorchidism. He had a history of recurrent fevers for 6 mo before this case presentation with multiple hospital admission, but no definitive diagnosis of the source of fever.
• Urinalysis was obtained that was normal.
• Leukocyte count was high at 11. CRP 79.7.
• BUN and serum creatinine were normal. Abdominal ultrasound revealed a cystic lesion (12 cm x 6 cm x 7 cm) extending from the pelvis to the upper abdomen.
• Both kidneys had increased echogenicity with moderate hydronephrosis.
• Distal loopogram showed the colon displaced by a large cystic lesion.
• CT showed large cystic lesion with the bowel shifted to the right side of the abdomen.
• Patient was taken to the operating room. A large cystic lesion was identified occupying the whole abdomen. It was attached to a bowel loop. The bowel loop was gently dissected to the cyst wall. A band was identified, which was later discovered to be an ectopic ureter connected to a small kidney surrounded by adhesions with hypoplastic renal vessels. This was a ureteric cyst connected to an atrophic kidney.
• A left nephro-ureterectomy was performed. The histopathology showed dysplastic and disorganized muscle coat, which was lined with columnar epithelial mucosa, rather than with transitional epithelium.

Takeaways

• Congenital segmental dilation of the ureter is rare in children. Only 12 cases are reported in the literature.
• Congenital segmental dilation of the ureter is characterized by a giant, focal segmental dilation of the mid ureter and ureteric cyst formation. The histopathology typically shows the ureter is lined with columnar epithelial mucosa rather than the usual transitional epithelium.
• With congenital segmental dilation of the ureter, the distal ureter may be normal, stenotic or atretic. The kidney sometimes shows duplicated collection system, hypoplastic, dysplastic or nonfunctioning kidney.
• Treatment options for congenital segmental dilation of the ureter include anastomosis of the upper normal ureter to the contralateral ureter. This is anastomosed in an end-to-side fashion. Other options include excision of the diseased segment with an end-to-end uretero-ureterostomy. Nephro-ureterectomy may be indicated.
• All newborns with anorectal malformation should have renal ultrasound to evaluate for renal anomalies.