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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 3  |  Issue : 4  |  Page : 220-223

Late diagnosis of Hirschsprung’s disease


Department of Radiology, Ahmadu Bello University/AhmaduBello University Teaching Hospital, Zaria, Kaduna, Nigeria

Date of Web Publication11-Jul-2017

Correspondence Address:
Suleiman Lawal
Radiology Department, Ahmadu Bello University Teaching Hospital, Zaria
Nigeria
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DOI: 10.4103/ssajm.ssajm_28_16

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  Abstract 

Hirschsprung’s disease is a congenital aganglionosis of the submucosal and myenteric neural plexuses principally affecting the rectosigmoid or rectal segments of varying length. Most cases become manifest during the neonatal period,but in rare instances, the disease is initially diagnosed in older children or adult patients.

Keywords: Congenital aganglionosis, Hirschsprung’s disease, myenteric neural plexuses, rectosigmoid


How to cite this article:
Lawal S, Ibinaiye PO, Olarinoye-Akorede SA, Igashi JB, Umdagas AH. Late diagnosis of Hirschsprung’s disease. Sub-Saharan Afr J Med 2016;3:220-3

How to cite this URL:
Lawal S, Ibinaiye PO, Olarinoye-Akorede SA, Igashi JB, Umdagas AH. Late diagnosis of Hirschsprung’s disease. Sub-Saharan Afr J Med [serial online] 2016 [cited 2021 Nov 30];3:220-3. Available from: https://www.ssajm.org/text.asp?2016/3/4/220/210199


  Introduction Top


Hirschsprung’s disease (HD) is a congenital aganglionosis of the submucosal (Meissner) and myenteric (Auerbach) neural plexuses principally affecting the rectosigmoid or rectal segments of varying length. Most cases become manifest during the neonatal period,[1] but in rare instances, the disease is initially diagnosed in older children or adult patients.[2],[3] In these cases, the patients may have milder disease and go undiagnosed, because the proximal innervated colon can be hypertrophied, to compensate for the distal obstructed aganglionic rectum. In addition, these patients often try to relieve the constipation by taking cathartics and using enemas. Eventually the dilated colon is no longer able to propel the feces distally. These patients then develop rapidly worsening constipation or fecal retention.

This case is being reported because of its late presentation.


  Case Report Top


A 12-year-old boy reported to the surgical outpatient department of the Ahmadu Bello University Teaching Hospital complaining of constipation for several years. He has frequent hospital visits with the same complain in the past 1 year. His mother confirmed the occasional use of local herbs to relieve symptoms. There was no history of delayed passage of meconium. The family history was unremarkable. Physical examination revealed he was small for age. There was significant abdominal distension with fullness at the flanks and shiny skin as a result of prolonged abdominal distention. The abdomen returns a tympanic note on percussion.

A working diagnosis of chronic constipation cause was made to rule out colonic mass.

Laboratory studies showed significant iron deficiency anemia with a hemoglobin level of 7.7 mg/dl.

A plain abdominal X-ray revealed extensive fecal loading of almost the entire colon [Figure 1]. A limited barium enema study with gastrografin showed markedly dilated rectum, whereas the descending colon measured 18 cm in maximum diameter. The rectum showed a smooth funnel shaped tapering toward the anus [Figure 2] and [Figure 3]. A radiological diagnosis of a short segment HD at the region of anorectum was made.
Figure 1: Plain film showing grossly dilated rectum and sigmoid colon with soft tissue opacity and mottled lucencies due to fecal matter

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Figure 2: Post contrast lateral rectum showing mixture of contrast with fecal matter in the dilated rectum which tappers towards the anus, (arrow)

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Figure 3: A-P contrast film of lower gastrointestinal study showing grossly distended rectum and colonic loop

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Full-thickness rectal biopsy taking about 1.5 cm above the dentate line (the distal rectum normally does not have ganglion cells) demonstrated inflamed mucosa and markedly thickened muscularis propria. No ganglion cells were seen in the portion of the enteric nervous system observed confirming the aganglionosis.

He underwent a subtotal proctolectomy and anal anastomosis with diverting loop colostomy. Intraoperative findings showed descending colon filled with firm solid fecal matter with the remaining colon massively dilated especially in the distal portion. The lumen of the descending colon was packed with firm solid fecal material. The colon was massively dilated, worse in the distal portion. The colonic wall was significantly thickened, up to 1.0 cm in thickness. On follow–up, there was dramatic improvement in the bowel function and patient gained weight rapidly. The colostomy stoma was closed a month later.


  Discussion Top


Ruysch has the credit of being the first to record the observation of HD,[4] in his published autopsy report, in 1691. It was about 200 years later, that the disease was reported by Hirschsprung.[5] In 1948, Whitehouse and Kernohan[6] documented the absence of ganglion cells in the myenteric plexus of Auerbach and the submucosal plexus of Meissner in all patients with true congenital megacolon. Their findings led to the development of an effective surgical treatment by Swenson and Bill[7] the same year.

HD affects approximately one in 5000 live births and usually presents in infancy and early childhood. Only a small number remain undetected after 5 years of age,[1] as in the case of our index patient who was discovered at 12 years old. The aganglionic segment in HD remains persistently contracted, as was demonstrated in this patients barium enema radiograph [Figure 2], whereas the proximal segment retains its peristaltic function. As a result, there is work hypertrophy, eventual dilatation (megacolon), and sometimes perforation of the normally innervated colon.[1] The index patient, though stable at the time diagnosis was made and hence subsequently managed, was at risk of perforation owing to the degree of bowel distention and stretching.

The diagnosis of HD rests primarily upon three methods of evaluation, which includes barium enema, anorectal manometry, and rectal biopsy. The initial step is a barium enema study, of which the most reliable contrast film finding is a clear-cut zone of transition between the aganglionic distal segment, which is narrow or of normal caliber, and the dilated proximal colon with normal ganglion cells. The transition zone to the dilated segment is often characterized as funnel shaped or inverted cone. Although the transition zone can be a very reliable sign, nonvisualization of this sign does not rule out HD. Other reliable signs may include retention of barium and the mixing of barium with stool,[8] all of which were clearly demonstrated in this patients radiograph. The plain film of this patient shows gross fecal distention of the large bowel with areas of mottled lucencies in keeping with feces mixed with air. The colonic loops could be difficult to differentiate and gas is usually absent in the rectum.[9] Computed tomography (CT) Scan may therefore be more useful for better anatomic delineation, but we have to weigh the excessive radiation risk and high cost against the possible benefit. This patient had no need for CT scan as the barium enema was diagnostic. Anorectal manometry will typically have shown absent internal anal sphincter relaxation in response to rectal distension, this was not done for this patient as the facility is not available here. Ultrasound will show a grossly distended rectum and colon with mixed echogenic solid fecal matter posterior to the urinary bladder. The sagittal and coronal pelvic images of magnetic resonance imaging of a high Tesla machine that is 1 T and above will give good delineation of the rectum and the bowels as well as their wall thickness. The diagnosis is confirmed by rectal biopsy. On biopsy and histochemistry from the narrowed segment shows absence of ganglion cells, hyperplasia, and hypertrophy of nerve fibers, and an increased level of the enzyme acetylcholinesterase.

Anuras et al.[2] reported four cases of adult patients with HD in whom the diagnosis was confirmed by rectal biopsy. Three of them showed pan colonic dilatation similar to our patient, but only two of the cases had rectal narrowing.

Miyamoto et al.,[3] not long ago, reported a 23-year-old man who had a history of chronic constipation that required daily enemas since early infancy. The patient had remained in good health until he experienced severe intestinal obstruction for which an emergency colostomy was performed. The typical adult patient with HD has a history of longstanding constipation since infancy or early childhood; the male-to-female ratio is approximately 4:1. Patient age ranges from 10 to 73 years, and the average age is 24.1 years. Our patient is a male and 12 years old that falls within this range. Half of the patients are younger than 30 years.[2],[3],[10]

Other symptoms they observed include abdominal discomfort, distension, and abdominal pain, and physical examination frequently reveals palpable fecal masses. The patients tend to use cathartics, suppositories, and enemas chronically to achieve bowel movements. Fecal incontinence is not a feature of the adult patient in contrast to infants. Rectal narrowing on barium enema is seen in three quarters of the patients. However, in about 20% of the patients with adult HD, a dilated colon without characteristic rectal narrowing, as seen in our patient, is demonstrated. This finding may be due to a short or, more commonly, an ultrashort diseased segment. The exact incidence of adult HD is unknown because those cases are frequently misdiagnosed or undiagnosed.

The diagnosis of HD in the adult can be much more difficult than the diagnosis in early infancy.[3] This is due to the rarity of the disease in adults and the higher incidence of short- or ultrashort-segment aganglionosis with relative mild symptoms during the early stage of the disease. Constipation and acquired megacolon in adults may be due to neoplasm, volvulus, stricture, slow colonic motility, Chagas disease, anatomical or functional outlet obstruction, or idiopathic (non-Hirschsprung’s) megacolon. Other causes include dietary factors, medications, psychologic factors, and systemic diseases. Whenever there is a reasonable doubt, manometric studies and biopsies are justified.


  Conclusion Top


A possibility of an ultrashort-segment HD should be considered in an older child presenting with chronic constipation. Barium enema study is the initial and vital step in the evaluation for HD, but when in doubt, manometric study and biopsy can be done.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Roy CC, Silverman A, Alagille D. Congenital aganglionic megacolon. Pediatric Clinical Gastroenterology. 4th ed. St. Louis, MO: 7 Mosby; 1995. p. 503-15.  Back to cited text no. 1
    
2.
Anuras S, Hade JE, Soffer E. Natural history of adult Hirschsprung’s disease. J Clin Gastroenterol 1984;6:205-10.  Back to cited text no. 2
    
3.
Miyamoto M, Egami K, Maeda S, Ohkawa K, Tanaka N, Uchida E et al. Hirschsprung’s disease in adults: report of a case and review of the literature. J Nippon Med Sch 2005;72:113-20.  Back to cited text no. 3
    
4.
Ruysch F. Observatinum Anatomic-Chirurgicarum Centuria. Amsterdam: Henricum etViduramTheodri Boom; 1691.  Back to cited text no. 4
    
5.
Hirschsprung H. Stuhltragheit neugeborener in folge von dilatation and hypertrophie des colons. Jahrb Kinderheilkd 1888;27:1-7.  Back to cited text no. 5
    
6.
Whitehouse FR, Kernohan JW. The myenteric plexus in congenital megacolon. Arch Intern Med 1948;24:212-20.  Back to cited text no. 6
    
7.
Swenson O, Bill AH. Resection of the rectum and recto-sigmoid with preservation of the sphincter for benign spastic lesions producing megacolon. Surgery 1978;21:246-55.  Back to cited text no. 7
    
8.
Rosenfield NC, Ablow RC, Markowitz RI, DiPietro M, Seashore JH, Touloukian RJ et al. Hirschsprung disease: accuracy of the barium enema examination. Radiology 1984;150:393-400.  Back to cited text no. 8
    
9.
Berrocal T, Lamas M, Gutieérrez J, Torres I, Prieto C, del Hoyo ML. Congenital anomalies of the small intestine, colon, and rectum. Radiographics 1999;19:1219-36.  Back to cited text no. 9
    
10.
Swenson O. Follow up on 200 patients treated for Hirschsprung’s disease during a ten years period. Ann Surg 1957;146:706-14.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]


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