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Journal of Pediatric Surgery (2013) 48, 243–246

Hirschsprung disease presenting as sigmoid volvulus: a casereport and review of the literature☆,☆☆

Mary Zenga, John Amodio b, Steve Schwarz a, Eugene Garrow c,Jiliu Xu a, Simon S. Rabinowitz a,⁎

aDepartment of Pediatrics, SUNY Downstate Medical Center, Brooklyn, NY 11203, USAbDepartment of Radiology, SUNY Downstate Medical Center, Brooklyn, NY 11203, USAcDepartment of Surgery, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA

Received 10 August 2012; revised 12 October 2012; accepted 13 October 2012

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Key words:Sigmoid volvulus;Hirschsprung disease;Children

Abstract While sigmoid volvulus is commonly seen in older patients, it is rarely encountered in children andyounger adults. Consequently, heightened awareness of this entity is required to avoid a delay in diagnosis.Among the pediatric and adult cases of colonic volvulus previously reported in the English literature, 23 ofthe affected individuals have also been diagnosed with Hirschsprung disease (HD). This report describes a12-year-old male with a history of chronic constipation who presented with vomiting and abdominaldistension and was found to have sigmoid volvulus with previously unrecognized HD. The case presentationis followed by a review of the literature describing colonic volvulus secondary to HD in children.© 2013 Elsevier Inc. All rights reserved.

HD usually presents with symptoms that include delayed 1. Case report

passage of meconium, bilious vomiting, and abdominaldistension. It can be complicated by enterocolitis withmorbidity and even mortality. While HD is most oftendiagnosed in the perinatal period, it can present during lateinfancy, early and late childhood, and even adulthood. SV isa rare complication of HD, which has been reported inneonates, children, and adults (1–6, 9, 11–13). Emergentnon-operative decompression or surgical intervention isoften required to prevent potentially life-threatening conse-quences. This article describes a child diagnosed with SVand HD, and reviews the 23 cases previously reported in theEnglish literature.

☆ All authors had access to the data and a role in writing the manuscript.☆☆ Conflict of Interest: None declared.⁎ Corresponding author. Children's Hospital at Downstate, Box 49,

rooklyn, NY 11203. Tel.: +1 718 270 1647; fax: +1 718 270 1985.E-mail address: simon.rabinowitz@downstate.edu (S.S. Rabinowitz).

022-3468/$ – see front matter © 2013 Elsevier Inc. All rights reserved.ttp://dx.doi.org/10.1016/j.jpedsurg.2012.10.042

A 12-year-old male with a history of chronic constipationwas admitted with the chief complaint of nonbloody,nonbilious vomiting and decreased oral intake for twodays. His last bowel movement was five days prior to theadmission. He had been followed in the clinic and whencompliant with his longstanding polyethylene glycol (PEG)he had a daily stool. He had been hospitalized three yearsearlier for similar complaints.

Physical examination demonstrated a short, thin adoles-cent male in mild respiratory distress. The abdomen wastympanitic, markedly distended, and had diminished bowelsounds. Hard stool was palpated in both lower quadrants.Rectal examination demonstrated hard fecal matter at thefinger tip, 5–6 cm from the anal verge, and the distal vaultwas empty. Plain abdominal radiographs suggested fecalimpaction. After multiple attempts at rectal irrigation and

244 M. Zeng et al.

PEG administration via a nasogastric tube, the abdominaldistension failed to resolve and his respiratory distressworsened.

Following fluid resuscitation, potassium repletion, andadministration of intravenous antibiotics, the patient under-went surgical disimpaction. This resulted in both reducedabdominal distension and improved respiratory status.However, over the next four days, he again deteriorated.The scout film from an abdominal CT scan showed a coffee-bean-shaped sigmoid colon with the midline crease of thevolvulated loops (representing the mesenteric crease) point-ing toward the right upper quadrant, strongly suggestive ofsigmoid volvulus (Fig. 1). He was taken to the operatingroom a second time. A colonoscope was unable to passbeyond 20 cm after entering a large dilated sigmoid loop,further raising suspicion for sigmoid volvulus. A soft rubberrectal tube was subsequently positioned proximally to thedistended loop, resulting in passage of a large amount ofstool and flatus. Follow-up radiographs confirmed resolutionof the sigmoid volvulus. At surgery, a full-thickness rectalwall biopsy was also obtained. Histopathology demonstratedaganglionosis and hypertrophic submucosal neural fibersconsistent with HD.

2. Discussion

SV is a rarely seen in patients with HD, with a reportedprevalence of 0.66% (1). Conversely, among childrenpresenting with SV, 18% also had HD (1, 6). Acomprehensive review of the English literature, summarized

Fig. 1 Abdominal CT scan scout view shows a coffee-bean-shaped sigmoid colon with the midline crease of the volvulatedloops pointing toward the right upper quadrant, strongly suggestiveof sigmoid volvulus.

in Table 1, lists a total of 23 previous reports (15 pediatric,8 adult) of HD presenting as colonic volvulus [1–12].Twenty-two out of 24 cases involved the sigmoid colon and21 of the patients were male, consistent with the overall malepredominance in HD. The age at presentation ranged from 1day to 38 years. Four cases occurred in neonates, 12 inchildren between 3 and 12 years, and 8 in adults (N18 years).While outcomes were not reported in six cases, twomortalities occurred among the remaining eighteen subjects(11%). Late presentation of HD, more common in shortsegment disease, can lead to chronic constipation, andmassive dilation of the sigmoid. This condition predisposesto volvulus, especially in patients with a pathologicallyredundant sigmoid colon and/or a freely mobile mesentery(1, 3, 6, 7, 8).

SV can present either as an acute, fulminating type thatmay evolve over hours and a more chronic, progressive typethat can persist intermittently for years [9]. Children with SVassociated with HD are reported to have a higher prevalenceof the acute presentation (91% or 10/11) than those with SVand no HD (55% or 28/51) [9]. Prompt diagnosis of the acutepresentation of volvulus has been found to decreasemorbidity and increase survival [10,12]. However, thediagnosis of colonic volvulus is more challenging in childrenthan in adults. Abdominal radiographs are less oftendiagnostic in affected pediatric than in adult patients (17%versus 60% [8], and 30% versus 57%–90% [11]). Anadditional review reported that abdominal radiographsshowed the diagnostic omega or coffee bean sign in only29% of pediatric cases (8 out of 28) [12]. As in adults,barium enema increases radiographic sensitivity, withreported diagnostic confirmation in 82 % (5), and 71% ofcases (6).

The approach to colonic volvulus in children remainscontroversial. If the patient is stable, a non-operativereduction of the volvulus with barium enema (BE) orsigmoidoscopy may be attempted [9,11-13]. One reportindicates that non-operative methods of decompressionwere less successful in children than in adults (33% versus76%) [8]. However, another review found that sigmoidvolvulus was reduced by BE in 10 out of 13 children(77%) [16]. Several authors suggest that BE should bepreferred over endoscopic detorsion in children [4,9,11]because of an enhanced success rate, 47% (7/15)compared to 77% (10/13) [9]. However, a large adultseries found that mortality was higher after BE (7.7%)than flexible sigmoidoscopy (0.5%) (10). Based uponthese data, we propose that either colonoscopy, usuallywith rectal tube placement, or a contrast enema, beconsidered as the initial approach to detorsion in the stablechild. Although only a few reports are available, non-operative reduction has been found to be less successful incases of volvulus proximal to the sigmoid colon [9]. If anon-surgical approach is unsuccessful at reducing thevolvulus or if there are signs of peritonitis, then immediatesurgery is warranted [11-13].

Table 1 Reports of Hirschsprung disease presenting as colonic volvulus, in chronological order.

CaseNumber

Reference[#] a

Locationof Report

Year Age Sex PerioperativeFindings

Treatment Outcome

1 Dean, Murry[1–3] a

US 1952 4 y M Sigmoid volvulus Detorsion, enema,operation

Recovered

2 Shepherd[1–3] a

Uganda 1969 12 y M Sigmoid volvulus Detorsion Died

3 Ciardimiet al. [1,3] a

Italy 1977 3 y M Sigmoid volvulus Not given Not given

4 Ciardimiet al. [1,3] a

Italy 1977 5 y M Sigmoid volvulus Not given Not given

5 Buts et al.[4]

Belgium 1980 10 y F Sigmoid volvulus Derorsion,sigmoidopexy,Swenson's procedure

Recovered

6 Valla et al.[1,3] a

France 1982 5 d M Sigmoid volvulus Resection Recovered

7 Valla et al.[1,3] a

France 1982 5 y M Sigmoid volvulus Resection Recovered

8 McCallaet al. [2]

US 1985 2 d M Sigmoid volvulus Detorsion,reoperation, colostomy

Recovered

9 Neilsonet al. [1,3] a

Canada 1990 11 y M Transverse colonicvolvulus

Detorsion, colostomy Recovered

10 Henaleset al. [5]

Palma deMallorca

1993 5 y M Sigmoid volvulus Detorsion, enterostomy,sphincterotomy

Recovered

11 Erdeneret al. [6]

Turkey 1995 3 y M Sigmoid volvulus Detorsion, colostomy,Soave's procedure

Recovered

12 Venugopalet al. [3] a

UK 1997 1 d M Sigmoid volvulus Enema, Soave's procedure Recovered

13 Sariogluet al. [1]

Turkey 1997 5 d M Cecal volvulus Detorsion, colostomy Recovered

14 Sariogluet al. [1]

Turkey 1997 11 y M Sigmoid volvulus Detorsion, colostomy Recovered

15 Puneetet al. [3] a

India 2000 12 y M Gangrenoussigmoid colon

Hartmann's procedure Recovered

16 Tanet al. [3]

Singapore 2006 38 y M Gangrenoussigmoid colon,dusky transverseand ascending colon

Proctocolectomy withileo-anal anastomosis andJ-pouch, defunctioningileostomy

Recovered

17 Ghaemiet al. [7]

Iran 2010 18 y F Sigmoid volvulus Detorsion, pull-throughprocedure, sigmoid colectomy

Not given

18 Ghaemiet al. [7]

Iran 2010 21 y M Sigmoid volvulus Detorsion, pull-throughprocedure, sigmoid colectomy

Not given

19 Ghaemiet al. [7]

Iran 2010 19 y M Sigmoid volvulus Detorsion, pull-throughprocedure, sigmoid colectomy

Not given

20 Ghaemiet al. [7]

Iran 2010 24 y M Sigmoid volvulus Detorsion, pull-throughprocedure, sigmoid colectomy

Not given

21 Alagumuthuet al. [8]

India 2011 33 y M Sigmoid volvulus Sigmoidectomy, defunctioningtransverse colostomy

Died

22 Alagumuthuet al. [8]

India 2011 18 y F Sigmoid volvulus Sigmoidectomy, double-barrelcolostomy, Swenson'sprocedure

Recovered

23 Alagumuthuet al. [8]

India 2011 24 y M Sigmoid volvulus Decompression, Soave'sprocedure

Recovered

24 Presentreport

US 2012 12 y M Sigmoid volvulus Detorsion, sigmoidoscopy,rectal tube placement

Recovered,awaitingresection

a Reference found in cited review article.

245Hirschsprung disease presenting as sigmoid volvulus

Fig. 2 An algorithm for the management of sigmoid volvulus in the pediatric population proposed by Salas et al. [9] and modified to includecolonoscopy and rectal tube placement as alternative methods of bowel reduction (HD, Hirschsprung disease).

246 M. Zeng et al.

Variable surgical approaches to colonic volvulus havealso been reported. A high likelihood of recurrence (35%)after initial detorsion only (9) has led some to recommenddefinitive treatment of colonic volvulus with resection of theaffected area [3]. Since patients with underlying HD remainat high risk of recurrence after detorsion alone and because ofthe significant prevalence of HD in pediatric SV, multipleauthors have recommended universal full-thickness biopsyto rule out aganglionosis [1,3,8,9]. Salas et al. proposed analgorithm for the management of SV in children with orwithout HD [9], which we have modified to includecolonoscopy and/or rectal tube placement as alternativestrategies to BE (Fig. 2).

In conclusion, colonic volvulus is a rare complication ofHD that is most likely to present as SV in a male child oradolescent with a history of chronic constipation anddelayed HD diagnosis. Because this condition is bothuncommon and more challenging to diagnose and managein the younger population, we encourage clinicians toconsider HD in young patients who present with colonicvolvulus. We propose that, non-operative reduction of thevolvulus is a viable option for clinically stable patients.Subsequently, definitive surgery, including a full-thicknessrectal biopsy for ganglion cells should be performed. Anychild who is found to have SV with concurrent HD willremain at risk for recurrence until definitive HD surgeryis performed.

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