Scholarly article on topic 'A case of Hirschsprung’s disease underwent surgery in adulthood'

A case of Hirschsprung’s disease underwent surgery in adulthood Academic research paper on "Clinical medicine"

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Abstract of research paper on Clinical medicine, author of scientific article — Richi Nakatake, Yoshinori Hamada, Hirokazu Miki, Takeshi Shirai, Yusuke Nakamura, et al.

Abstract Adult Hirschsprung's disease is a rare motor disorder of the gut that is frequently misdiagnosed as refractory constipation. We describe a 30-year-old patient with adult Hirschsprung's disease with a history of chronic constipation requiring daily enema. Barium enema and rectal biopsy showed short segment-type Hirschsprung's disease with a grossly distended sigmoid colon with fecal retention. Staged operations, including the Duhamel-GIA method as a definitive surgery, completely resolved the patient's symptoms. There were no complications by the end of a 7-year follow-up. Adult Hirschsprung's disease should be considered in the differential diagnosis of cases where adult patients present with chronic constipation. Despite technical difficulty of the modified Duhamel-GIA procedure due to chronic fibrous changes of the rectum, it is a feasible surgical option for treating cases of adult Hirschsprung's disease.

Academic research paper on topic "A case of Hirschsprung’s disease underwent surgery in adulthood"

journal of Pediatric Surgery

CASE REPORTS

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A case of Hirschsprung's disease underwent surgery in adulthood

Richi Nakatake, Yoshinori Hamada, Hirokazu Miki, Takeshi Shirai, Yusuke Nakamura, Hiroshi Hamada, Morihiko Ishizaki, Masanori Kon

PII: S2213-5766(16)30128-2

DOI: 10.1016/j.epsc.2016.07.005

Reference: EPSC 608

To appear in: Journal of Pediatric Surgery Case Reports

Received Date: 21 June 2016 Revised Date: 8 July 2016 Accepted Date: 8 July 2016

Please cite this article as: Nakatake R, Hamada Y, Miki H, Shirai T, Nakamura Y, Hamada H, Ishizaki M, Kon M, A case of Hirschsprung's disease underwent surgery in adulthood, Journal of Pediatric Surgery Case Reports (2016), doi: 10.1016/j.epsc.2016.07.005.

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A case of Hirschsprung's disease underwent surgery in adulthood

Richi Nakatakea, Yoshinori Hamadaa, Hirokazu Mikia, Takeshi Shiraia, Yusuke Nakamuraa, Hiroshi Hamadaa, Morihiko Ishizakia, Masanori Konb

aDivision of Pediatric Surgery, Department of Surgery, Kansai Medical University, 2-5-1, Hirakata, Osaka 573-1191, Japan

^Department of Surgery, Kansai Medical University, 2-5-1, Hirakata, Osaka 573-1191, Japan

Yoshinori Hamada: hamaday@hirakata.kmu.ac.jp Hirokazu Miki: mikih@hirakata.kmu.ac.jp Takeshi Shirai: shiraitk@hirakata.kmu.ac.jp Yusuke Nakamura: nakamyus@hirakata.kmu.ac.jp Hiroshi Hamada: hamadahr@hirakata.kmu.ac.jp Morihiko Ishizaki: ishizakm@hirakata.kmu.ac.jp Masanori Kon: kon@hirakata.kmu.ac.jp

Corresponding author:

Richi Nakatake, M.D., Ph.D.

Division of Pediatric Surgery

Department of Surgery

Kansai Medical University

2-5-1 Shinmachi, Hirakata

Osaka 573-1010, Japan

Tel: +81-72-804-2574

Fax: +81-72-804-2578

E-mail: nakatakr@hirakata.kmu.ac.jp

Figures: 5

Abbreviations: Hirschsprung's disease (HD), computed tomography (CT)

Abstract

Adult Hirschsprung's disease is a rare motor disorder of the gut that is frequently misdiagnosed as refractory constipation. We describe a 30-year-old patient with adult Hirschsprung's disease with a history of chronic constipation requiring daily enema. Barium enema and rectal biopsy showed short segment-type Hirschsprung's disease with a grossly distended sigmoid colon with fecal retention. Staged operations, including the Duhamel-GIA method as a definitive surgery, completely resolved the patient's symptoms. There were no complications by the end of a 7-year follow-up. Adult Hirschsprung's disease should be considered in the differential diagnosis of cases where adult patients present with chronic constipation. Despite technical difficulty of the modified Duhamel-GIA procedure due to chronic fibrous changes of the rectum, it is a feasible surgical option for treating cases of adult Hirschsprung's disease.

KEY WORDS: Hirschsprung's disease, adult case, Duhamel-GIA procedure

Hirschsprung's disease (HD), or congenital intestinal aganglionosis, is characterized by the absence of neurons in the distal colon. This results from a lack of migration of neural crest cells to the large intestine during fetal development. HD typically manifests in early childhood. However, rarely, the diagnosis may be delayed for several years when "adult HD" patients present with refractory constipation, intestinal obstruction, sigmoid volvulus, or colonic perforation!.Uncertainties surrounding the diagnosis and treatment of HD presenting in childhood have largely been resolved. However, in some cases, this condition may be masked when constipation is managed reasonably successfully by enemas and aperients. This allows some patients to reach adulthood before a diagnosis is made. This condition is also masked if functional decompensation of the colon, fecal impaction, and megacolon precipitate surgical intervention.

We report a case of a young adult who was found to have HD and was offered appropriate definitive treatment.

1. Case report

A 30-year-old man presented with constipation and abdominal distention, without any bowel movement and diffuse abdominal pain. Skin lesions, such as eczema, were observed. He had suffered from constipation since he was 2 years old and was suspected as having HD by rectal manometry and barium enema at approximately 5 years old (Fig. 1), but no surgery was performed. He had suffered from anemia and malnutrition since he was 8 years old. His bowel movements were well self-controlled by a daily glycerin enema since he was 18 years old. He did not have hematochezia and had not undergone any previous surgery.

Plain films of the abdomen showed the characteristic shadow of a mass of feces occupying almost the entire abdomen, but there were no air-fluid levels in the intestine (Fig. 2a). Severe abdominal distention and tenderness at this presentation prompted diagnostic testing with a contrast enhanced computed tomography (CT) scan. The distal colon and recto-sigmoid were markedly dilated with impacted stool (Fig. 2b). A barium enema study showed a highly dilated rectum and a caliber change (Fig. 3). A routine laboratory evaluation, including a complete blood count, urinalysis, and blood chemistry testing, were all within normal limits, except for anemia (Hb: 6.7 g/dl).

By washing out the feces to manage the distal colon, 5.2 kg of feces was evacuated, and rectal biopsy was performed under general anesthesia. A rectal biopsy indicated the diagnosis of HD based on acetylcholine esterase activity (Fig. 4).

Two months after bowel preparation, he underwent rectosigmoidectomy and colostomy to decompress his feces-laden colon (Fig. 5). The walls of the rectum and sigmoid colon were grossly dilated and extremely thickened with fibromatous changes and

formation of collateral vessels. The rectum was resected at as low a level as possible toward peritoneal reflection. The operation time was 239 min and bleeding volume was 924 ml. Postoperative recovery was uneventful.

At 3 months after discharge, a definitive surgery was performed by modification of the Duhamel procedure using a GIA stapler (length, 100 mm; stapler height, 4.8 mm; Covidien, Mansfield, MA, USA) . The operation was difficult because of the situation of an adult case as follows. First, secured stapling could not be achieved. Because of a hard and thickened rectal wall, adequate longitudinal approximation to pull through the colon could not be carried out, even using the tallest GIA stapler available. Additional manual suturing was needed to ensure adaptation of each edge. Closure of the rectal stump to the pull-through colon was also difficult to anastomose. Second, adequate retrorectal anastomosis was difficult to perform. The anus became organically hard and stenotic because of a chronic mechanical anal glycerin enema. Therefore, the anus was not able to be sufficiently dilated to visualize the dentate line. This problem caused difficulty in performing the correct incision just above the dentate line and in achieving adequate manual retrorectal anastomosis. Third, too long rectumwas left for one time stapling from the abdominal side. A wide and thickened rectal stump was left approximately 7 cm long from the peritoneal reflection at the definitive surgery. By using a GIA stapler that was 100 mm in length, residual uncut rectum approximately 5 cm long was left at the anal side. Therefore, additional cutting from the anal side was needed, but the narrow anal opening disturbed smooth insertion of the GIA stapler. The total operation time was 12 h and 9 min and bleeding volume was 4445 ml.

Several days after surgery, the patient developed the symptom of minor leakage, but it was relieved by conservative treatment. Following discharge, the patient has been well, with complete resolution of symptoms and normal continence and sexual potency. The skin lesion also disappeared. The frequency of bowel movements is once or twice a day, and the stool characteristics are normal. A barium enema study (Fig. 6a) and magnetic resonance imaging (Fig. 6b) 1 year after definitive surgery showed double tracts, but

megacolon or a blind rectal pouch was not observed. Follow-up findings over a 7-year period have been good.

2. Discussion

Adult HD is a rare condition posing a diagnostic and therapeutic challenge. A total of 94% of these cases are diagnosed before the patient is 5 years old. In rare milder cases of these disorders, the patient may not receive a diagnosis until he/she reaches adulthood2. HD is not commonly found in adults because most patients are diagnosed early in life and are treated surgically. However, some patients with mild symptoms of HD may go undiagnosed into adulthood. This situation can occur because the colonic region proximal to the distally obstructed segment assumes a compensatory role. Diagnosis is not easy given the non-specific presentation of the disease which may manifest in advanced years (up to 73 years of age in some reported cases)3. The term "adult HD" has been applied to cases in which the patient is older than 10 years of age when the diagnosis is first established4,5. According to a detailed literature review described by Miyamoto6, 175 adult cases of HD have been reported.

A two-stage procedure is recommended as the safest operative approach for treating adult HD7. This recommendation is based on the fact that chronic fecal overload causes massive colonic dilatation and bowel disparity, resulting in difficulty in forming an anastomosis. Frozen section biopsy and colostomy are recommended as the first stage of treatment, followed by abdomino-anal pull-through several months later. This may allow the colon to gradually return to its normal condition with a time interval between operations and to decrease the risk of postsurgical complications. Zaafouri recommended two therapeutic approaches in the management of patients: The first approach consisted of a two-stage surgical operation comprising a colostomy in its first phase, for bowel cleaning by removal of the fecaloma, followed, a few months later by surgical resection. The second

approach was based on a single-stage operation in which the resection, restoration of continuity and coloanal anastomosis were all performed during the same intervention3.

There are six surgical procedures used to treat adult HD. The Soave procedure, the Swenson procedure, and the Duhamel procedure are the same as those used for classic HD in infancy. To treat adult HD, there are more than three surgical procedures. Myectomy, LAR/Myectomy and LAR/colectomy. The Soave procedure, the Swenson procedure, and the Duhamel procedure procedures involve resection of a histologically confirmed aganglionic bowel, but differ in the mode of reconstruction. The Soave procedure involves removal of the rectal mucosa, while retaining the muscular cuff, and a ganlionic segment of the colon is anastomosed to the mucosa of the anal canal. In the Swenson procedure, the aganglionic rectum is resected and the ganglionic colon is anastomosed to the anal canal. The Duhamel procedure is the most practiced technique in the world: according to a British review study published in 20101. The Duhamel procedure involves side-to-side colorectal anastomosis after drawing the ganglionic colon retro-rectally through a window that is created in the posterior upper anal canal. Because of the rarity of adult HD, comparing the different procedures is difficult8. In recent years, a consensus of published complications and functional outcomes favored resection or bypass of the aganglionic segment by the Duhamel operation5,9,10. In the Duhamel operation, operative morbidity is lower than that associated with the Soave and Swenson procedures5,11. This is because only limited pelvic dissection is necessary to complete the Duhamel procedure, reducing the risk of pelvic nerve injury and involving less pelvic dissection.

However, all three surgeries are universally difficult to perform because of a severely thickened and dilated rectal wall. Zaafouri described the choice of the technique often depends on the habits and experience of team of surgions3. Surgical Treatment should to be used the same procedures as operation techniques for HD in infancy and more adapted techniques in adult depending on the situation. Zaafouri recommended colorectal

resection with coloanal anasutomosis when they are perfomed by experienced surgions, give in the long run excellent results with a low morbidity and no-surgery related mortality3. Wang has reported the long-term results obtained over 44 months and the quality of life of 59 patients operated by the technique consisted in performing a subtotal colectomy with a modified Duhamel procedure12. Growth of fibrous tissue in the rectal wall and surrounding tissue with formation of new blood vessels make the operation difficult. To manufacture covering colostomy may decrease the risk of leakage.

3. Conclusion

In conclusion, adult HD is a difficult condition to treat. The operations for HD are technically difficult for adult cases because of chronic fibrous changes of the rectum. Surgeons should decide on the operative procedure and staged surgery after due consideration. Adult HD should be considered in the differential diagnosis of cases where adult patients present with chronic constipation. Staged operations, including the Duhamel-GIA method as a definitive surgery using a GIA stapler, are a viable surgical option for treating cases of adult HD.

References

1. Doodnath R, Puri P. A systematic review and meta-analysis of Hirschsprung's disease presenting after childhood. Pediatr Surg Int 2010; 26:1107-10. □

2. Powell RW. Hirschsprung's disease in adolescents, misadventures in diagnosis and management. Am Surg 1989; 55: 212-8.

3. Haithem Zaafouri, Skander Mrad, Manel Mabrouk, Noomen Haoues, Mariam Bel Hadj Salah, Rabii Noomene, et al. Hirschsprung's disease in adults: Clinical and therapeutic features. International Research Journal of Surgery 2015; 2(1): 9-017.

4. Rosin JD, Bargen JA, Waugh JM. Congenital megacolon of a man 54 years of age. Report of a case. Mayo Clin Proc 1950; 25: 710-5.

5. Barnes PRH, Lennard-Jones JE, Hawley PR, Todd IP. Hirschprung's disease and idiopathic megacolon in adults and adolescents. Gut 1986; 27: 534-41.

6. 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.

7. Fairgrieve J. Hirschsprung's disease in the adult. Br J Surg 1963; 50: 506-14.

8. Keighley MRB, Williams NS (1999 2nd edition) Adult Megacolon and megarectum. In Surgery of the Anus, Rectum and Colon. WB Saunders, London 1993: 639-74.

9. Elliot MS, Todd IP. Adult Hirschprung's disease: results of the Duhamel procedure. Br J Surg 1985; 72: 884-5. □

10. Natsikas NB, Sbarounis CN. Adult Hirschprung's disease: an experience with the Duhamel-Martin procedure with special reference to obstructed patients. Dis Colon Rectum 1987; 30: 204-6.

11. Elliot MS, Todd IP. Adult Hirschsprung's disease: results of the Duhamel procedure. Br J Surg 1985; 72: 884-5.

12. Lin Wang, Qi He, Jun Jiang, Ning Li. Long-term outcomes and quality of life after subtotal colectomy combined with modified Duhamel procedure for adult Hirschsprung's disease. Pediatr Surg Int 2014; 30:55-61.)

Figure le gends

Fig. 1

Barium enema showed a narrow segment in the rectum susupected short type aganglionosis

(arrow).

Fig. 2

(a) A huge mass of feces can be seen occupying the entire abdomen, but there are no-air

fluid levels in the intestine.

(b) Computed tomography showing the sigmoid colon with feces inside, which displace the

abdominal viscera.

Fig. 3

Barium enema study shows an extremely dilated rectum and a caliber change (arrow). Fig. 4

Rectal mucosa stained with the acetylcholinesterase (AChE) method (x80 original magnification). AChE staining revealed the presence of increased number of AChE-positive nerve fibers in the rectal biopsy specimen. These characteristics indicate HD.

Fig. 5

Operative view of sigmoidectomy and colostomy. Fig. 6

(a) Contrast enema after pull-through (arrow).

(b) Magnetic resonance imaging does not show megacolon or an anterior rectal pouch.

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Fig. 2a (Nakatake et al.)

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Fig. 6a (Nakatake et al.)

Highlights

1. Surgery in adult HD is difficult because of chronic fibrous changes of the rectum.

2. Surgeons should decide on the operative procedure and staged surgery.

3. Staged operations including the Duhamel-GIA method are a viable surgical option.