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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 5  |  Issue : 4  |  Page : 274-276

Colonic perforation in a neonate with low anorectal malformation: A case report and literature review


Department of Paediatric Surgery, TNMC and BYL Nair Hospital, Mumbai, Maharashtra, India

Date of Web Publication16-Nov-2016

Correspondence Address:
Prof. Hemanshi Shah
Department of Paediatric Surgery, TNMC and BYL Nair Hospital, Mumbai - 400 008, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4847.194177

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  Abstract 

Anorectal malformation (ARM) is a common neonatal anomaly. Gastrointestinal perforation in a neonate with this anomaly is uncommon. Much rarer, there is a perforation complicating a low ARM with anocutaneous fistula discharging meconium and gas. We present a case of colonic perforation in a neonate with low ARM and an anocutaneous fistula.

Keywords: Anorectal malformation, neonate, perforation


How to cite this article:
Tiwari C, Shah H, Bothra J, Sandlas G. Colonic perforation in a neonate with low anorectal malformation: A case report and literature review. J Clin Neonatol 2016;5:274-6

How to cite this URL:
Tiwari C, Shah H, Bothra J, Sandlas G. Colonic perforation in a neonate with low anorectal malformation: A case report and literature review. J Clin Neonatol [serial online] 2016 [cited 2020 Jul 13];5:274-6. Available from: http://www.jcnonweb.com/text.asp?2016/5/4/274/194177


  Introduction Top


Neonatal colonic perforations are rare and even rarer are those which complicate anorectal malformations (ARMs).[1],[2] The commonly described etiologies of colonic perforations are intestinal atresias, Hirschsprung's disease (HD), enterocolitis, and instrumentation. Delayed presentation of the patient has been regarded as one of the causes for perforation. However, colonic perforation in low ARM with an anocutaneous fistula deflating with passage of meconium and gas is rare. A high index of suspicion in neonates with ARM who present with features of sepsis and peritonitis is useful for diagnosis.[1] The appropriate surgical management depends on the physiological state of the patient, site of perforation, type of the anorectal anomaly, and the degree of peritoneal contamination.[1]


  Case Report Top


A 4-day-old full-term male child, 2.5 kg at birth, presented with massive abdominal distention, absent anal opening at the normal site, and history of expelling meconium and gas from an anterior perineal site since birth. His vitals were stable. Abdomen was soft, nontender with gross distension. On perineal examination, an anocutaneous fistula with meconium was present between the scrotum and well-formed anal pit [Figure 1]. Erect abdominal X-ray revealed pneumoperitoneum [Figure 2]. At laparotomy, colon was grossly dilated with a perforation at the ascending colon. Loop colostomy was done at the perforation site. Anoplasty was done. Colostomy site showed the presence of ganglion cells. The baby was discharged on anal dilatations and distal loop washes. Barium enema, full-thickness rectal biopsy, and anorectal manometry done after 6 weeks were normal. Colostomy was closed after 3 months. The baby is asymptomatic on regular follow-up.
Figure 1: Local perineal examination of the patient showing an anocutaneous fistula with meconium being present between the scrotum and well-formed anal pit

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Figure 2: Erect abdominal X-ray of the patient showing pneumoperitoneum

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  Discussion Top


Colonic perforation in a neonate with ARM is a serious and rare complication, with an estimated incidence of 2%.[1] This incidence increases to about 9.5% in cases where the diagnosis is delayed.[1] The neonatal mortality increases from 3% to 23% in cases of ARM complicated by perforation.[1] A simple perineal examination often helps diagnose ARM in a neonate; however, the presence of meconium in the perineum in low ARM may lead to delay in diagnosis, especially at a peripheral center or in cases of home delivery.

There is relative paucity of the literature on spontaneous perforation of the colon in ARM, probably due to the rarity of its occurrence and inadequate reporting.[1] The median age at the onset or diagnosis of perforation in ARM cases has been reported to be 48 h.[1],[2],[3],[4] Turowski et al. have reported two perforations among 99 cases of ARM (2% incidence). In a subset analysis, they found two perforations (9.5%) among 21 cases with delayed presentation of ARM.[3] Mathur et al. recorded five perforations (6.5%) among 77 cases of ARM with congenital pouch colon (CPC).[4] An Indian study reported two perforations (1.6%) out of 125 cases of ARM.[1] High and low varieties of ARM are equally susceptible to perforation.[1] Bowel rupture frequently occurs in ARM without fistula; however, anomalies with fistula are also not spared.[1] Occlusion of a tiny fistula by inspissated meconium may have caused perforation due to raised intraluminal pressure in cases of fistulous ARM (usually decompressed by fistula).[1],[4] Nearly 85% of perforations occurred in males and the rarity of perforation in females is probably caused by the high frequency of low ARM with a wide recto-fourchette fistula.[1] The cecum has been reported to be the most common site.[1],[2]

Based on an extensive literature review, Raveenthiran has identified two distinct patterns of perforation: Type 1 (88%) occurred before surgical decompression of the obstructed colon, whereas Type 2 (12%) occurred postoperatively.[5] Type 1 cases were subdivided into cecal (Type 1a, 16%), transverse colon (Type 1b, 8%), rectosigmoid (Type 1c, 60%), and miscellaneous (Type 1d, 4%) perforations.[5] Type 1a is best treated with cecostomy and distal colostomy; Type 1b with exteriorization of the perforation; and Types 1c and 1d with closure of the perforation and proximal colostomy.[5]

The etiopathogenesis of gastrointestinal perforation in neonates with ARM can be explained by a combination of factors.[1],[2] The distal occlusion causes proximal intestinal dilatation and increases in intraluminal pressure resulting in tension gangrene.[1],[2] It may undergo perforation even when the closed loop obstruction has been relieved, precipitating an ischemia–reperfusion injury which should emphasize the vital role of close clinical observation of such cases in the postoperative period.[1],[2] The other possible etiology implicated is congenital muscular deficiency in the region of the tailgut, which makes the rectum susceptible to perforation in the presence of distal obstruction. Thus, colonic perforations cannot be simply attributed to the delayed diagnosis or treatment of ARM because there are a few case reports of bowel rupture occurring during intrauterine life.[2] A high incidence of bowel perforation in CPC also favors the muscular deficiency theory.

A high index of suspicion in neonates with ARM presenting with clinical signs of sepsis and peritonitis helps in early diagnosis.[1],[2] The presence of pneumoperitoneum on the abdominal X-ray is confirmatory, which has been reported in 60%–70% of neonates with gastrointestinal perforation.[1],[2] Contrast studies may sometimes be hazardous and are not routinely recommended in such sick neonates.[1],[2]

The management of gastrointestinal perforation in neonates with ARM aims at aggressive resuscitation and early surgical intervention.[1],[2] The management options are primary closure of the perforation in selective cases; exteriorization of the perforation as a stoma or its primary closure with a proximal diverting stoma.[1],[2] The surgery for low ARM can be done at the same time.[1]

The overall mortality of perforated ARM is 19%.[1] Sepsis and disseminated intravascular coagulation were frequent causes of death.[1] Early diagnosis of ARM in neonates, better understanding of the pathophysiology of perforation in ARM, and early surgical decompression of the obstructed colon would help reduce mortality in such cases.[1]

The association of ARM with classical HD has been reported in 2.3%–3.4% cases.[6] It is recommended to take a frozen section rectal biopsy to rule out HD at the time of anorectoplasty before deciding the extent of resection.[7] However, its association with neuronal intestinal dysplasia (NID) is not uncommon (60%); more recently, their association especially with low ARM is significant. Thus, their association suggests the importance of mutation analysis of HD and NID genes (RET and EDNRB) in ARM-affected individuals.[8]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Parelkar SV, Kapadnis SP, Sanghvi BV, Joshi PB, Mundada DD, Oak SN. Neonatal sigmoid colon perforation: A rare occurrence in low anorectal malformation and review of the literature. Pediatr Neonatol 2016;57:232-5.  Back to cited text no. 1
    
2.
Sandlas G, Kothari P, Sarda D, Karkera P. Spontaneous bowel perforation in a neonate with anorectal malformation. Saudi J Gastroenterol 2011;17:72-3.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
3.
Turowski C, Dingemann J, Gillick J. Delayed diagnosis of imperforate anus: An unacceptable morbidity. Pediatr Surg Int 2010;26:1083-6.  Back to cited text no. 3
    
4.
Mathur P, Saxena AK, Bajaj M, Chandra T, Sharma NC, Simlot A, et al. Role of plain abdominal radiographs in predicting type of congenital pouch colon. Pediatr Radiol 2010;40:1603-8.  Back to cited text no. 4
    
5.
Raveenthiran V. Spontaneous perforation of the colon and rectum complicating anorectal malformations in neonates. J Pediatr Surg 2012;47:720-6.  Back to cited text no. 5
    
6.
Sinha CK, Grewal A, Ward HC. Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation' A unique association. J Pediatr Surg 2007;42:1454-6.  Back to cited text no. 6
    
7.
Smith ED, Saeki M. Associated anomalies. Birth Defects Orig Artic Ser 1988;24:501-49.  Back to cited text no. 7
    
8.
Alexander M, Holschneider AM, Hutson JM, editors. Anorectal Malformations in children. Heidelberg, Springer; 2006.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2]



 

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