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Intestinal perforation in preterm infant as an unusual initial presentation of Hirschsprung's disease
J Ped Surg Case Reports 1 (2013) 381e382
Contents lists available at ScienceDirect
Journal of Pediatric Surgery CASE REPORTS journal homepage: www.jpscasereports.com
Intestinal perforation in preterm infant as an unusual initial presentation of Hirschsprung’s diseaseq Toghrul Talishinskiy a, *, Sandra Tomita b a b
Department of Surgery, New York University Medical Center, NYU School of Medicine, 550 First Avenue, NBV-15 N1, New York, NY 10016, USA Department of Pediatric Surgery, New York University Medical Center, USA
a r t i c l e i n f o
a b s t r a c t
Article history: Received 23 July 2013 Received in revised form 6 October 2013 Accepted 7 October 2013
Intestinal perforations in preterm infants are often associated with necrotizing enterocolitis or spontaneous ileal perforation. Isolated colonic perforation is a rare presentation of Hirschsprung’s disease (HD), especially in premature infants. We report a case of descending colon perforation with pneumoperitoneum at 3 days of life in a 34 week infant which was initially attributed to NEC. This case demonstrates that an isolated colonic perforation, even in the descending colon and preterm infant, can be attributed to Hirschsprung’s disease. Ó 2013 The Authors. Published by Elsevier Inc. All rights reserved.
Key words: Perforation Preterm infant Hirschsprung’s disease
The majority of children with HD present with distal functional intestinal obstruction characterized by delayed passage of meconium, abdominal distension, bilious emesis, and feeding intolerance [1,2]. Intestinal perforation, is a rare but reported initial presentation of HD. Likewise, HD presenting in a premature infant is unusual. This case illustrates the importance of challenging the usual assumptions in managing a newborn with a bowel perforation. It also offers the opportunity to review the literature on the intestinal perforations in neonates as well as the prevalence of prematurity in HD. 1. Case report A 3-day-old male born at 34 weeks gestation developed abdominal distention one day after starting feeds. Plain radiograph of his abdomen showed dilated bowel, possible pneumatosis, as well as a large amount of pneumoperitoneum (Fig. 1). He was brought to the operating room for exploratory laparotomy for bowel perforation. During exploratory laparotomy pneumatosis of
q This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-No Derivative Works License, which permits non-commercial use, distribution, and reproduction in any medium, provided the original author and source are credited. Disclosure statement: The authors do not have any conflicts of interest to report. * Corresponding author. Tel.: þ1 212 263 6378; fax: þ1 212 263 8216. E-mail address: [email protected] (T. Talishinskiy).
about a 2-cm area of descending colon along the antimesenteric border with a tiny microperforation and minimal contamination was identified. This area was resected, and the colostomy and mucus fistula was created. Examination of the resected segment of bowel revealed chronic active serositis and presence of ganglion cells. Six weeks after the initial surgery he was brought back for colostomy closure; preoperatively, he was tolerating full feeds and a contrast enema study was normal. Limited resection was performed of the colostomy and mucus fistula, and an end-to-end anastomosis was performed. The procedure was uneventful but postoperatively the patient was intermittently distended and had difficulty feeding and stooling. A retrograde contrast enema done without inflation of the balloon showed no transition zone but mucosal irregularity was noted (Fig. 2). A suction rectal biopsy was performed which showed no ganglion cells, consistent with Hirschsprung’s disease. He was brought to OR four weeks after the closure of the colostomy and underwent Soave endorectal pullthrough. Intraoperatively, the transition zone was identified at approximately a few centimeters above the peritoneal reflection. Patient made an uneventful recovery.
2. Discussion Intestinal perforation in the neonate has been reviewed in at least three large series in the past. NEC and spontaneous perforation were, as expected, by far, the most common causes of bowel
2213-5766/$ e see front matter Ó 2013 The Authors. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.epsc.2013.10.003
382
T. Talishinskiy, S. Tomita / J Ped Surg Case Reports 1 (2013) 381e382
Fig. 1. AXR revealing large amount of pneumoperitoneum.
perforation in all three series. In Grosfeld’s series, NEC and ileal perforation accounted for over 75% of all causes of bowel perforation, with only 1 patient of 179 having HD [3]. In Tan’s series, only 3 of 56 had Hirschsprung’s disease [4]. In St-Vil’s series, only 2 of 81 had HD [5].
Colonic perforation in the neonate, in particular, is very rare. Komuro astutely intimates, in his review of colonic perforations in neonates, that HD should be ruled out if no anatomic obstruction is found. In his series of eight neonates with colonic perforation, two had HD [6]. As an initial presentation of HD, intestinal perforation is uncommon. Swenson et al. in his large series of 501 patients with HD described 16 perforations (3.2%) [7]. In Polley’s study, only 2 of 99 newborns with HD presented with perforation [8]. In another study by Newman, 2 of 45 HD patients presented with perforation [9]. In Surana’s study, 8 of 77 HD patients presented with perforation [10]. Unlike our case, in which the perforation occurred in the left colon, most perforations actually occur in the cecum or appendix where physiologically, the pressure is the greatest. Also uncommon is the presentation of HD in the premature infant. In one large series of newborns with HD, only 1 of 99 patients was premature [8]. In another recent series where all suction rectal biopsies done for delayed passage of stool were reviewed, 6 of 113 premature infants (5.3%) had HD vs. 79 of 156 terms infants (50%), a statistically significant difference [11]. There is one other case report of HD presenting with perforation in a premature infant; Courvouisiser et al. reported a case with 28 week infant with HD who presented with cecal perforation on the 5th day of life with pneumoperitoneum [12]. As in our case, the diagnosis was delayed. In addition to the prematurity and bowel perforation as the presenting symptom of HD, this patient’s diagnosis was confounded by the pneumatosis seen during operation. Interestingly, the NEC-type findings in a patient with HD have been noted previously by Raboei who found a very high incidence of HD in term patients with NEC [13].
3. Conclusion This case emphasizes the importance expanding the limits of conventional wisdom in managing a premature infant with bowel perforation and a clinical picture of NEC. Not only may a bowel perforation in a premature infant be secondary to HD but the bowel perforation may be the initial presentation of HD.
References
Fig. 2. Contrast enema without transition zone but with mucosal irregularity.
[1] Puri P. Hirschsprung’s disease. Paediatric surgery. New York: Springer; 2006. p. 275e88. [2] Langer JC. Hirschsprung disease. Curr Opin Pediatr 2013;25:368e74. [3] Grosfeld JL, Molinari F, Chaet M, Engum SA, West KW, Rescorla FJ, et al. Gastrointestinal perforation and peritonitis in infants and children: experience with 179 cases over ten years. Surgery 1996;120:650e6. [4] Tan CEL, Keily EM, Agrawal M, Brevton RI, Spitz L. Neonatal gastrointestinal perforation. J Pediatr Surg 1989;24:888e92. [5] St-Vil D, LeBouthillier G, Luks F, Bensoussan AL, Blanchard H, Youssef S. Neonatal gastrointestinal perforations. J Pediatr Surg 1992;27:1340e2. [6] Komuro H, Urita Y, Hori T, Hirai M, Kudou S, Gotoh C, et al. Perforation of the colon in neonates. J Pediatr Surg 2005;40:1916e9. [7] Swenson O, Sherman JO, Fisher JH. Diagnosis of congenital megacolon: an analysis of 501 patients. J Pediatr Surg 1973;8:587e93. [8] Polley TZ, Coran AG. Hirschsprung’s disease in the newborn. Pediatr Surg Int 1986;1:80e3. [9] Newman B, Nussbaum A, Kirkpatrick JJ. Bowel perforation in Hirschsprung’s disease. Am J Roentgenol 1987;148:1195e7. [10] Surana R, Quinn FMJ, Puri P. Neonatal intestinal perforation in Hirschsprung’s disease. Pediatr Surg Int 1994;9:501e2. [11] Sharp Ne, Pettiford-Cunningham J, Shah SR, Thomas P, Juang D, St Peter SD, et al. The prevalence of Hirschsprung disease in premature infants after suction rectal biopsy. J Surg Res 2013;184:374e7. [12] Courvoisier S, Piolat C, Durand C, Cneude F, Andrini P, Jacquier C, et al. Pseudo“isolated” intestinal perforation in a very low birth weight infant: exceptional presentation of Hirschsprung’s disease. Arch Pediatr 2006;13:1320e2. [13] Raboei EH. Necrotizing enterocolitis in full-term neonates: is it aganglionosis? Eur J Pediatr Surg 2009;19:101e4.
Contents lists available at ScienceDirect
Journal of Pediatric Surgery CASE REPORTS journal homepage: www.jpscasereports.com
Intestinal perforation in preterm infant as an unusual initial presentation of Hirschsprung’s diseaseq Toghrul Talishinskiy a, *, Sandra Tomita b a b
Department of Surgery, New York University Medical Center, NYU School of Medicine, 550 First Avenue, NBV-15 N1, New York, NY 10016, USA Department of Pediatric Surgery, New York University Medical Center, USA
a r t i c l e i n f o
a b s t r a c t
Article history: Received 23 July 2013 Received in revised form 6 October 2013 Accepted 7 October 2013
Intestinal perforations in preterm infants are often associated with necrotizing enterocolitis or spontaneous ileal perforation. Isolated colonic perforation is a rare presentation of Hirschsprung’s disease (HD), especially in premature infants. We report a case of descending colon perforation with pneumoperitoneum at 3 days of life in a 34 week infant which was initially attributed to NEC. This case demonstrates that an isolated colonic perforation, even in the descending colon and preterm infant, can be attributed to Hirschsprung’s disease. Ó 2013 The Authors. Published by Elsevier Inc. All rights reserved.
Key words: Perforation Preterm infant Hirschsprung’s disease
The majority of children with HD present with distal functional intestinal obstruction characterized by delayed passage of meconium, abdominal distension, bilious emesis, and feeding intolerance [1,2]. Intestinal perforation, is a rare but reported initial presentation of HD. Likewise, HD presenting in a premature infant is unusual. This case illustrates the importance of challenging the usual assumptions in managing a newborn with a bowel perforation. It also offers the opportunity to review the literature on the intestinal perforations in neonates as well as the prevalence of prematurity in HD. 1. Case report A 3-day-old male born at 34 weeks gestation developed abdominal distention one day after starting feeds. Plain radiograph of his abdomen showed dilated bowel, possible pneumatosis, as well as a large amount of pneumoperitoneum (Fig. 1). He was brought to the operating room for exploratory laparotomy for bowel perforation. During exploratory laparotomy pneumatosis of
q This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-No Derivative Works License, which permits non-commercial use, distribution, and reproduction in any medium, provided the original author and source are credited. Disclosure statement: The authors do not have any conflicts of interest to report. * Corresponding author. Tel.: þ1 212 263 6378; fax: þ1 212 263 8216. E-mail address: [email protected] (T. Talishinskiy).
about a 2-cm area of descending colon along the antimesenteric border with a tiny microperforation and minimal contamination was identified. This area was resected, and the colostomy and mucus fistula was created. Examination of the resected segment of bowel revealed chronic active serositis and presence of ganglion cells. Six weeks after the initial surgery he was brought back for colostomy closure; preoperatively, he was tolerating full feeds and a contrast enema study was normal. Limited resection was performed of the colostomy and mucus fistula, and an end-to-end anastomosis was performed. The procedure was uneventful but postoperatively the patient was intermittently distended and had difficulty feeding and stooling. A retrograde contrast enema done without inflation of the balloon showed no transition zone but mucosal irregularity was noted (Fig. 2). A suction rectal biopsy was performed which showed no ganglion cells, consistent with Hirschsprung’s disease. He was brought to OR four weeks after the closure of the colostomy and underwent Soave endorectal pullthrough. Intraoperatively, the transition zone was identified at approximately a few centimeters above the peritoneal reflection. Patient made an uneventful recovery.
2. Discussion Intestinal perforation in the neonate has been reviewed in at least three large series in the past. NEC and spontaneous perforation were, as expected, by far, the most common causes of bowel
2213-5766/$ e see front matter Ó 2013 The Authors. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.epsc.2013.10.003
382
T. Talishinskiy, S. Tomita / J Ped Surg Case Reports 1 (2013) 381e382
Fig. 1. AXR revealing large amount of pneumoperitoneum.
perforation in all three series. In Grosfeld’s series, NEC and ileal perforation accounted for over 75% of all causes of bowel perforation, with only 1 patient of 179 having HD [3]. In Tan’s series, only 3 of 56 had Hirschsprung’s disease [4]. In St-Vil’s series, only 2 of 81 had HD [5].
Colonic perforation in the neonate, in particular, is very rare. Komuro astutely intimates, in his review of colonic perforations in neonates, that HD should be ruled out if no anatomic obstruction is found. In his series of eight neonates with colonic perforation, two had HD [6]. As an initial presentation of HD, intestinal perforation is uncommon. Swenson et al. in his large series of 501 patients with HD described 16 perforations (3.2%) [7]. In Polley’s study, only 2 of 99 newborns with HD presented with perforation [8]. In another study by Newman, 2 of 45 HD patients presented with perforation [9]. In Surana’s study, 8 of 77 HD patients presented with perforation [10]. Unlike our case, in which the perforation occurred in the left colon, most perforations actually occur in the cecum or appendix where physiologically, the pressure is the greatest. Also uncommon is the presentation of HD in the premature infant. In one large series of newborns with HD, only 1 of 99 patients was premature [8]. In another recent series where all suction rectal biopsies done for delayed passage of stool were reviewed, 6 of 113 premature infants (5.3%) had HD vs. 79 of 156 terms infants (50%), a statistically significant difference [11]. There is one other case report of HD presenting with perforation in a premature infant; Courvouisiser et al. reported a case with 28 week infant with HD who presented with cecal perforation on the 5th day of life with pneumoperitoneum [12]. As in our case, the diagnosis was delayed. In addition to the prematurity and bowel perforation as the presenting symptom of HD, this patient’s diagnosis was confounded by the pneumatosis seen during operation. Interestingly, the NEC-type findings in a patient with HD have been noted previously by Raboei who found a very high incidence of HD in term patients with NEC [13].
3. Conclusion This case emphasizes the importance expanding the limits of conventional wisdom in managing a premature infant with bowel perforation and a clinical picture of NEC. Not only may a bowel perforation in a premature infant be secondary to HD but the bowel perforation may be the initial presentation of HD.
References
Fig. 2. Contrast enema without transition zone but with mucosal irregularity.
[1] Puri P. Hirschsprung’s disease. Paediatric surgery. New York: Springer; 2006. p. 275e88. [2] Langer JC. Hirschsprung disease. Curr Opin Pediatr 2013;25:368e74. [3] Grosfeld JL, Molinari F, Chaet M, Engum SA, West KW, Rescorla FJ, et al. Gastrointestinal perforation and peritonitis in infants and children: experience with 179 cases over ten years. Surgery 1996;120:650e6. [4] Tan CEL, Keily EM, Agrawal M, Brevton RI, Spitz L. Neonatal gastrointestinal perforation. J Pediatr Surg 1989;24:888e92. [5] St-Vil D, LeBouthillier G, Luks F, Bensoussan AL, Blanchard H, Youssef S. Neonatal gastrointestinal perforations. J Pediatr Surg 1992;27:1340e2. [6] Komuro H, Urita Y, Hori T, Hirai M, Kudou S, Gotoh C, et al. Perforation of the colon in neonates. J Pediatr Surg 2005;40:1916e9. [7] Swenson O, Sherman JO, Fisher JH. Diagnosis of congenital megacolon: an analysis of 501 patients. J Pediatr Surg 1973;8:587e93. [8] Polley TZ, Coran AG. Hirschsprung’s disease in the newborn. Pediatr Surg Int 1986;1:80e3. [9] Newman B, Nussbaum A, Kirkpatrick JJ. Bowel perforation in Hirschsprung’s disease. Am J Roentgenol 1987;148:1195e7. [10] Surana R, Quinn FMJ, Puri P. Neonatal intestinal perforation in Hirschsprung’s disease. Pediatr Surg Int 1994;9:501e2. [11] Sharp Ne, Pettiford-Cunningham J, Shah SR, Thomas P, Juang D, St Peter SD, et al. The prevalence of Hirschsprung disease in premature infants after suction rectal biopsy. J Surg Res 2013;184:374e7. [12] Courvoisier S, Piolat C, Durand C, Cneude F, Andrini P, Jacquier C, et al. Pseudo“isolated” intestinal perforation in a very low birth weight infant: exceptional presentation of Hirschsprung’s disease. Arch Pediatr 2006;13:1320e2. [13] Raboei EH. Necrotizing enterocolitis in full-term neonates: is it aganglionosis? Eur J Pediatr Surg 2009;19:101e4.