Prune belly syndrome with congenital pouch colon.

We report a rare case of prune belly syndrome associated with congenital pouch colon, which was managed successfully.

INTRODUCTION

Prune belly syndrome (PBS) is a triad of an abdominal wall deficiency in muscular tissue, cryptorchidism, and dilated urinary tract. The incidence of PBS has been reported to be 1 in 29,000 to 1 in 40,000 live births.[1] Congenital pouch colon is a rare type of anorectal malformation, in which the colon is malformed into a retort-shaped pouch partly or totally. Association of congenial pouch colon with prune belly syndrome is extremely rare, and there are only four such cases reported in the English literature.

CASE REPORT

A term male neonate, one of the twins, born by vaginal delivery to a 22-year primigravida, was brought to our hospital with an absent anal opening. Antenatal period was unsupervised. On examination, the abdomen was flabby, with visible loops of intestine and peristaltic movement. The scrotum was empty, and testes were impalpable on both sides [Figure 1]. The perineal examination revealed absent anal opening and well-formed median raphe with a flat perineum. A plain abdominal and a cross table prone lateral radiograph showed a large air-fluid level covering more than 50% of the width of the abdomen and crossing the midline, suggestive of a high anorectal anomaly with pouch colon [Figure 2]. An abdominal ultrasonogram showed a distended urinary bladder and bilateral grossly hydronephrotic kidneys, with bilateral dilated and tortuous ureters and distended bowel loops. Initial hematological investigation showed normal renal parameters and electrolytes. A colostomy was planned. Exploration revealed no muscular tissue in the abdominal wall except for the fascial layer. Recto-sigmoid was replaced by a pouch-like structure (Type 4 pouch colon)[2] with a colovesical fistula. There was an abrupt transition from the normal caliber proximal bowel to the distal dilated pouch, it lacked haustrations, appendices epiploicae, and taenia coli [Figure 3]. The bladder was distended, and both the ureters were dilated and tortuous. The colovesical fistula was disconnected, the pouch colon was excised, and proximal colon was brought out and end colostomy was done. Postoperative recovery was uneventful. Histopathological examination of the resected colonic pouch showed normal colonic mucosa and ganglion cells. In view of the normal renal function and spontaneously emptying bladder completely without any obstruction, watchful waiting was planned, and the patient was put on prophylactic antibiotics.

Figure 1

Flabby abdomen with visible bowel loops and bilateral undescended testis

Figure 2

Cross table prone lateral radiograph. Both the radiographs showing one large air-fluid level suggestive of a high anorectal anomaly with pouch colon

Figure 3

Intra-operative photograph showing an abrupt transition from the normal caliber proximal bowel to the distal dilated pouch (Type 4 pouch colon)

DISCUSSION

PBS represents a spectrum of anomalies.[3-5] The exact embryogenesis of PBS is not known.[6] Congenital pouch colon, also known as congenital short colon, is an unusual high anorectal malformation, in which a varying length of colon is replaced by a dilated pouch that almost invariably has a wide, high fistulous communication with the genitourinary tract.[2] We assume that the presence of a dilated pouch can aggravate the severity of manifestations of PBS, because the pouch in the abdomen and pelvic cavity can behave like a distended bladder. Imperforate anus may occur in association with a small percentage of PBS and if associated with urethral atresia, it may be fairly difficult to treat because of the need for both external gastrointestinal tract and urinary tract diversion in the face of extreme abdominal wall laxity. Review of English literature revealed only four cases of PBS in association with CPC[7-10] and only one case of urethral atresia along with this rare combination.[9] Our case is the fifth to report PBS associated with CPC.