Gut 1996; 39: 765-767

Zonal adult Hirschsprung's disease

C G Fu, T Muto, T Masaki, H Nagawa

AbstractBackground-Hirschsprung's disease is acongenital disorder which is rare in adult-hood. In typical cases the aganglionosisinvolves mainly the rectum or recto-sigmoid colon and the lesion starts fromthe anal valve. Zonal segmental agang-lionosis is a very rare type even inchildren.Patient-A 54 year old women with zonalsegmental aganglionosis had an agang-lionic segment 18 cm in length located inthe rectosigmoid colon with an 8 cm longnormal appearing rectum and dilatedproximal colon. Resection of the stenoticsegment with end to end anastomosis wasperformed.Conclusion-The functional result wasexcellent five years after the operation.(Gut 1996; 39: 765-767)

Keywords: adult Hirschsprung's disease, constipation,megacolon.

First Departmentof Surgery,University ofTokyo,Tokyo, JapanC G FuT MutoT MasakiH Nagawa

Department ofColorectal Surgery,Changhai Hospital,Second MilitaryMedical University,Shanghai, People'sRepubic ofChinaC G FuCorrespondence to:Professor Tetsuichiro Muto,First Department of Surgery,University of Tokyo, 7-3-1Hongo Bunkyo-ku, Tokyo,Japan, 1 13.

Accepted for publication30 May 1996

Hirschsprung's disease is a congenital disorderwhich is rare in adulthood.' 2 In typical cases,the aganglionosis involves mainly the rectum orrectosigmoid colon and the lesion starts fromthe anal verge proximally for varying distances.The involved segment is narrowed and in atonic state due to the lack of parasympatheticganglion cells in both intramural and sub-mucosal plexuses and the unopposed sympath-etic activity.35Zonal segmental aganglionosis, a vary rare

type even in children, in which there is alocalised segment of colonic aganglionosis withthe presence of myenteric ganglionic cellsabove and below the aganglionic segment wasfirst described by Tiffin et al6 in 1940. Sincethen, although more cases have been re-ported,7'-2 the existence of this rare type ofaganglionosis is still controversial.'3 14We report an adult case with zonal colonic

aganglionosis.

Case reportA 54 year old women had had life longrefractory constipation. At the age of 9 years,a transverse colostomy was performed due tolong lasting refractory constipation. This wasclosed at the age of 23 at the patient's request.Constipation recurred immediately after theoperation. On admission, a barium enemastudy showed a persistent annular stenoticsegment of the rectosigmoid colon 16 cm inlength, 15 cm in luminal diameter, startingabout 8 cm above the anal verge. The calibreof the distal rectum was normal. The proximalsigmoid colon was very dilated with fecalithes

inside (Fig 1). Fibrocoloscopy showed normalmucosa in the stenotic segment and the distalrectum. Rectoanal reflexion examination dis-closed that the fall in anal pressure was lessthan normal when a rectal balloon was inflatedwith 60 ml air and there was a stronger over-shoot of the anal pressure after that than innormal patients. In defecography, barium inthe distal rectum could be defecated, but witha longer time. Biopsy examination suggestedthat ganglion cells in the distal rectum weredecreased in number whereas no ganglion cellscould be found in the narrowed rectum. Acetylcholinesterase staining was negative in a biopsyspecimen of the narrowed part, which wastaken by coloscopy and was later considered asinsufficient in depth. Unfortunately, stainingwas not performed on the resected specimen.

Routine laboratory evaluation, including acomplete blood cell count, urine analysis, andblood chemistry studies, was normal.Due to the extremely dilated proximal colon

and difficulty in preparing the bowel, divertingtransverse colostomy was performed at the firstadmission followed by definitive operationwith closure of the colostomy nine monthslater. The narrowed segment of the rectum wasresected down to the normal appearing rectumand anastomosis was performed about 5 cmabove the anal verge. The resected specimen of

Figure 1: Narrowed segment of rectosigmoid colon withnormal appearing distal rectum and dilated proximal colonshown by barium enema examination.

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Fu, Muto, Masaki, Nagawa

Figure 2: Resected specimen showing the narrowed segment, the proximal dilated colon, andthe normal appearing distal rectum with two transitional zones (arrows).

Figure 3: Aganglionic zone with hypertrophied nerve trunks (haematoxylin and eosinoriginally X100).

Figure 4: Decreased distribution ofganglion cels (arrow) in the distal normal appearingrectum (haematoxylin and eosin originally X 100).

the colon was 20 cm in length after fixation.Figure 2 shows two transitional zones, whichdivide the rectosigmoid colon into three parts:the proximal dilated part (Fig 2A), the stenotic

part (Fig 2B), and the distal normal appearingpart (Fig 2C). The stenotic segment (Fig 2between the two arrows) was 12 cm in lengthand 4 cm in width; the width of the proximalcolon was 10-5 cm and the distal rectum 6 cm.The colour of the narrowed and the distalrectum was normal, whereas there wasmelanosis in the proximal colon. Ganglion cellswere not found in the submucosal or intra-mural layers in the narrowed part of the colonhistopathologically, and nerve trunks in thispart were both hypertrophied (Fig 3) andincreased in number. The number of ganglionsor ganglion cells in each ganglion in the distalnormal appearing rectum were less than thosein the proximal dilated colon (Fig 4 and Fig 5).Postoperative recovery was uneventful and thepatient enjoyed defecation once a day afteroperation, with differentiating gas and stool.No incontinence was encountered and nolaxatives was needed at least until five yearsafter the operation.

DiscussionHirschsprung's disease is a congenital diseasewhich occurs in about one in 5000 births.Ninety four per cent are diagnosed before theage of 5 years. In rare cases, the patients maybe undiagnosed until adulthood.' 15

In typical Hirschsprung's disease, the agang-lionosis starts from the anal valve, spreadsproximally, and involves only the rectum andsigmoid colon. This clinical feature concurswith embryological studies, which showed thatthe myenteric plexus arose from neuroblastmigration into the alimentary tract in a cranialto caudal direction during the fifth to 12thweek of gestation.'6 Thus when abnormalitiesoccur, the distal part of the bowel is most likelyto be involved. This results in the loss of relaxability of the involved rectum and absence ofrectoanal reflexion. In less than 10% of thepatients, aganglionosis may occur more proxi-mally and in some cases even the ascendingcolon or small intestine may be involved.'lZonal aganglionosis 'in which there is an

area of colonic aganglionosis with the presenceof myenteric ganglion cells above and belowthe aganglionic segment' is a very rare type ofthis disease.71-2 Since 1940, when Tiffin et alfirst reported a case with zonal aganglionosis,only 15 cases have been reported'2 and amongthem only two were adults. The reason for thisspecific type is unclear. Kadair et al speculatedthat it might be the result of a 'skip' of neuro-blast migration and distribution in the embry-onic development period.9 In most reportedcases, the distribution of the ganglion cells inthe distal part of the colon or rectum wasnormal. However, in this patient, the numberof ganglion cells in the distal rectum wasdecreased compared with that in the proximalcolon and no ganglion cells could be found inthe narrowed segment. This might be ex-plained by the abnormality in embryologicaldevelopment.

In adults, the diagnosis of Hirschsprung'sdisease should be made with care, as patientswith idiopathic megacolon may also be

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....~~~ontpae......v.....iae coon.....rther-...submucosal and intramural layers and lead topersistent contraction of the involved colonand megacolon proximally, such as in Chagas'disease.'7 Thus, as in this case, the patientshould not only have a narrowed segment ofthe colon or rectum with dilated proximalcolon, but also a lifelong history of refractoryconstipation for making the diagnosis.Laboratory examinations, such as rectoanalreflexion, defecography, and acetyl cholin-esterase staining should also be considered ifthe diagnosis is suspected, and the resultsshould support the diagnosis. It should also bekept in mind that there might be someexceptions. As in this case, although the resultsof rectoanal reflexion and defecography werenot normal, there was rectoanal reflexion andthe patient could defecate the banium in thedistal rectum, but with a longer time. Alsoacetyl cholinesterase staining was negative inthe biopsy specimen (later it was consideredthat the biopsy was not deep enough). So, thefinal diagnosis should be made on general

consideration of the history, laboratory exam-ination, and histopathological examination ofthe stenotic segment of the colon or rectum.Doctors who treated this patient when she was9 and 23 had suspected the diagnosis ofHirschsprung's disease, when they performedor closed the transverse colostomy, but un-fortunately they were confused by the atypicalclinical features and delayed the diagnosis.Otherwise, the patient would not have sufferedfrom continuous constipation until the age of54 years.

1 Ikeda K, Goto S. Diagnosis and treatment ofHirschsprung's disease in Japan. An analysis of 1628patients. Ann Surg 1984; 199: 400-5.

2 Fairgrieve J. Hirschsprung's disease in the adult. Br J Surg1963; 50: 506-14.

3 Bentley JF. Some new observations on megacolon in infancyand childhood with special reference to the managementofmagasigmoid and megarectum. Dis Colon Rectum 1964;7: 462-70.

4 Ikeda K, Goto S. Total colonic aganglionosis with orwithout small bowel involvement. An analysis of 137patients. 7 Pediatr Surg 1986; 21: 319-22.

5 Venugopal S, Mancer K, Shandling B. The validity of rectalbiopsy in relation to morphology and distribution ofganglion cells. Jf Pediatr Surg 198 1; 16: 433-7.

6 Tiffin MD, Chandler LR, Faber HK. Localized absence ofthe ganglion cells of the myenteric plexus in congenitalmegacolon. Am _J Dis Child 1940; 59: 1071-82.

7 Swenson 0, Rheinlander HF, Diamond I. Hirschsprung'sdisease: a new concept ofthe etiology. NEnglJMed 1949;241: 551-6.

8 Sprinz H, Cohen A, Heaton LD. Hirschsprung's diseasewith skip area. Ann Surg 1961; 153: 143-8.

9 Kadair RG, Sims JE, Critchfield CF. Zonal colonic hypo-ganglionosis.JAMA 1977; 238: 1838-40.

10 de-Chadarevian JP, Slim M, Akel S. Double zonalaganglionosis in long segment Hirschsprung's diseasewith a "skip area" in transverse colon. Jf Pediatr Surg 1982;17: 195-7.

11 McCready RA, Beart RW Jr. Adult Hirschsprung's disease:results of surgical treatment at Mayo Clinic. Dis ColonRectum 1980; 23: 401-7.

12 Moriya H, Nakazaki H, Yokoyama S, Tajima T, Mitomi T,Satou S. A case of segmental aganglionosis localizeddescending colon. JpnJ Gastroenterol 1996; 93: 39-44. (InJapanese).

13 Yunis E, Sieber WK, Akers DR. Does zonal aganglionosisreally exist? Report of a rare variety of Hirschsprung'sdisease and review of the literature. Pediatr Pathol 1983;1: 33-49.

14 Wheatley MJ, Wesley JR, Coran AG, Polley TZ Jr.Hirschsprung's disease adolescence and adults. Dis ColonRectum 1990; 33: 622-9.

15 Powell RW. Hirschsprung's disease in adolescents: mis-adventures in diagnosis and management. Am Surg 1989;55: 212-8.

16 Okamoto E, Ueda T. Embryogenesis of intramural gangliaof the gut and its relation to Hirschsprung's disease. JPediatr Surg 1967; 2: 437-43.

17 Todd IP, Porter NH, Morson BC, Smith B, Friedmann CA,Neal RA. Chagas' disease of the colon and rectum. Gut1969; 10: 1009-14.

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