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Year : 2018  |  Volume : 7  |  Issue : 1  |  Page : 44-45

Perineal fistula associated with jejunal atresia- A diagnostic dilemma

Department of Pediatric Surgery, King George's Medical University, Lucknow, Uttar Pradesh, India

Date of Web Publication6-Feb-2018

Correspondence Address:
Dr. Anand Pandey
Department of Pediatric Surgery, King George's Medical University, Lucknow - 226 003, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcn.JCN_102_16

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Anorectal malformation (ARM) is a common congenital anomaly with diverse clinical presentations. It may be associated with other congenital anomalies. We operated a patient of ARM who was diagnosed to be high type of ARM. Intra-operatively, it was found to be a case of perineal fistula with jejunal atresia. Being an extremely rare presentation, it is being presented with review of relevant literature.

Keywords: Anorectal malformation, jejunal atresia, low anorectal malformation

How to cite this article:
Sunil K, Verma AK, Pandey A, Gupta A. Perineal fistula associated with jejunal atresia- A diagnostic dilemma. J Clin Neonatol 2018;7:44-5

How to cite this URL:
Sunil K, Verma AK, Pandey A, Gupta A. Perineal fistula associated with jejunal atresia- A diagnostic dilemma. J Clin Neonatol [serial online] 2018 [cited 2022 May 19];7:44-5. Available from: https://www.jcnonweb.com/text.asp?2018/7/1/44/224805

  Introduction Top

A norectal malformation (ARM) is a common congenital condition. Up to 70% of patients may have co-existing anomalies.[1] Of the various co-existing anomalies, intestinal atresia, excluding the duodenum, occurs once in every 5000 live births.[2] Of the various clinical presentations of ARM, perineal fistula is a type, which may be managed by anoplasty. However, if the fistula is not obvious due to proximal obstruction, the diagnosis may be difficult. We operated a patient of perineal fistula with proximal jejunal atresia. The diagnosis of perineal fistula was delayed due to microcolon caused by jejunal atresia. Being a rare presentation of ARM, it is being reported with review of the relevant literature.

  Case Report Top

A 3-day-old, full-term male neonate was referred to our department with the complaint of absent anal opening. There was no history of meconuria. The weight of the baby was 2.8 kg. On clinical examination, there was generalized abdominal distension, visible bowel loops, and the absence of anal opening. There was bilateral palpable undescended testis (UDT). The sacrum was normal. We were able to negotiate the infant feeding tube per nasally up to stomach. Clinically, there was no evidence of other congenital anomalies.

Prone cross table X-ray revealed few abnormally large gas shadows [Figure 1]a. Since patient had ARM, he patient was planned for sigmoid colostomy. A left pelvic incision was made; however, instead of dilated colon, there was microcolon indicating the possibility of proximal bowel obstruction. Thereafter, the incision was extended medially for a formal laparotomy. It revealed jejunal atresia, which was about 40 cm distal to duodenojejunal junction [Figure 1]b. Both the testes were also located intraabdominally. Resection of atretic jejunal segment along with Bishop-Koop anastomosis and sigmoid loop colostomy were performed. Irrigation of the distal limb of colostomy was performed to clear it.
Figure 1: (a) X-ray of the baby showing large gas shadows in the abdomen. (b) Intra-operative picture with Type 3 jejunal atresia. (c) First postoperative day picture in which some amount of stool is coming out via perineal fistula

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On the 1st postoperative day, we noticed some amount of stool coming out through a very tiny opening at the anal site [Figure 1]c. Hence, the diagnosis turned out to be perineal fistula with jejunal atresia with bilateral UDT. The stoma started functioning on the 7th postoperative day. However, his attendant did not wish to stay further, and despite our advice left the hospital.

  Discussion Top

ARM is well-known congenital anomalies having a wide variety of presentations. This is evident from a large number of classification systems; still every type cannot be accommodated in any classification system. Besides the diverse presentations of ARM, 43%–71% have additional congenital anatomical anomalies.[3] However, jejunal atresia associated with ARM is not a common entity.[4]

Intestinal atresia is the most common cause of congenital bowel obstruction of which 39% are jejunal or ileal.[5] Most jejuno-ileal atresia occurs due to in utero insult to the vascular supply of localized effected segment with ischemic necrosis and subsequent resorption of effected segment.

The presence of jejunal atresia with ARM may pose some diagnostic dilemma. Since it was a jejunal atresia, the distal bowel could not be distended. Hence, a perineal fistula, which is a low type of anomaly, was missed in the initial workup, as meconium could not reach up to the distal most part of obstruction. This led to the erroneous diagnosis of high ARM.

Radiologically, the gas in the grossly distended jejunum gave an impression of high type of ARM. A proximal obstruction leading to a false diagnosis of high ARM is a known fallacy of cross table X-ray.[6] It may be argued that a careful perineal examination would have revealed the stenotic opening. In this regard, it is to be informed that the opening was very small, and only when saline irrigation was performed, we were able to see the saline coming out from it, that too on the 1st postoperative day. For the very same reason, we did not look for the distal end of the microcolon as it would not have been possible to diagnose a recto-prostatic or recto-bulbar urethral fistula through laparotomy. We felt that making a colostomy would be safe for the baby. It may also be argued that these gas shadows may possibly be a triple bubble appearance, which is diagnostic of jejunal atresia. We would like to say that the enormous gas, along with ARM, will not let jejunal atresia as the only consideration. Since there was a dilemma, we decided to proceed taking this as ARM.

To conclude, this uncommon association of perineal fistula and jejunal atresia must be kept in mind, while dealing a patient of ARM. If it turns out to be one such case and if patient's general condition allows, anoplasty may be performed in the single setting.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Byun SY, Lim RK, Park KH, Cho YH, Kim HY. Anorectal malformations associated with esophageal atresia in neonates. Pediatr Gastroenterol Hepatol Nutr 2013;16:28-33.  Back to cited text no. 1
Asabe K, Handa N. Anorectal malformation with ileal atresia. Pediatr Surg Int 1997;12:302-4.  Back to cited text no. 2
van den Hondel D, Wijers CH, van Bever Y, de Klein A, Marcelis CL, de Blaauw I, et al. Patients with anorectal malformation and upper limb anomalies: Genetic evaluation is warranted. Eur J Pediatr 2016;175:489-97.  Back to cited text no. 3
Maitra S, Sarkar R. Anorectal malformation associated with small and large bowel atresias: A rare association. J Neonatal Surg 2012;1:59.  Back to cited text no. 4
Wax JR, Hamilton T, Cartin A, Dudley J, Pinette MG, Blackstone J, et al. Congenital jejunal and ileal atresia: Natural prenatal sonographic history and association with neonatal outcome. J Ultrasound Med 2006;25:337-42.  Back to cited text no. 5
Bekhit E, Murphy F, Piri P, Hutson JM. The clinical features and diagnostic guidelines for identification of anorectal malformation. In: Holschneider AM, Hutson JM editors. Anorectal Malformations in Children. Germany: Springer-Verlag, Heidelberg; 2006. p. 163-84.  Back to cited text no. 6


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