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Pediatric Surgery International
Published in: Pediatric Surgery International 2/2017

01-02-2017 | Original Article

The evaluation of rectal mucosal punch biopsy in the diagnosis of Hirschsprung’s disease: a 30-year experience of 954 patients

Authors: Koichiro Yoshimaru, Yoshiaki Kinoshita, Yusuke Yanagi, Satoshi Obata, Takahiro Jimbo, Tsuyoshi Iwanaka, Yoshiaki Takahashi, Genshiro Esumi, Junko A. Miyata, Toshiharu Matsuura, Tomoko Izaki, Tomoaki Taguchi

Published in: Pediatric Surgery International | Issue 2/2017

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Abstract

Purpose

For 30 years, we have consecutively performed rectal mucosal punch biopsy to diagnose Hirschsprung’s disease. The aim of this study was to evaluate the safety of our technique.

Methods

Patients with suspected Hirschsprung’s disease who underwent punch biopsy, including our original “K-PUNCH” method using an S-moid forceps and non-specific blood-collecting tube at our department and branch hospital between April 1986 and March 2016 were included in the present study. Our punch biopsy technique is characterized by excellent visibility and a direct grasping sensation. The backgrounds and complications of the patients were retrospectively investigated.

Results

During this period, 954 patients (median age 4 months; range 1 day–73 years) underwent punch biopsy. Although there were no cases of severe complications (i.e., rectal perforation, infection or full-thickness biopsy), one (0.1%) of the 954 cases in the early period showed liver dysfunction and required transfusion due to bleeding. In addition, inappropriate specimens were obtained in 37 patients (3.9%).

Conclusion

Punch biopsy including the “K-PUNCH” method is considered safe and feasible and is associated with a low rate of complications and inappropriate specimen harvesting among patients of all ages. Comorbidities, including the potential for hemorrhage, should always be considered.
Literature
1.
Suita S, Taguchi T, Ieiri S, Nakatsuji T (2005) Hirschsprung’s disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years. J Pediatr Surg 40:197–201CrossRefPubMed
2.
3.
Gherardi GJ (1960) Pathology of the ganglionic-aganglionic junction in congenital megacolon. Arch Pathol 69:520–523PubMed
4.
Dobbins WO 3rd, Bill AH Jr (1965) Diagnosis of Hirschsprung’s disease excluded by rectal suction biopsy. N Engl J Med 272:990–993CrossRefPubMed
5.
Noblett HR (1969) A rectal suction biopsy tube for use in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 4:406–409CrossRefPubMed
6.
Shandling (1961) A new technique in the diagnosis of Hirschsprung’s disease. Can J Surg 4:298–305PubMed
7.
Campbell PE, Noblett HR (1969) Experience with rectal suction biopsy in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 4:410–415CrossRefPubMed
8.
Rees BI, Azmy A, Nigam M, Lake BD (1983) Complications of rectal suction biopsy. J Pediatr Surg 18:273–275CrossRefPubMed
9.
Jani BR, Brereton RJ, Dillon MJ (1989) Peripheral limb gangrene following rectal biopsy. Treatment with prostacyclin and exchange transfusion. Clin Pediatr (Phila) 28:585–588CrossRef
10.
Athow AC, Filipe MI, Drake DP (1990) Problems and advantages of acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 25:520–526CrossRefPubMed
11.
Schmittenbecher PP, Schmidt A, Meier-Ruge W, Wiebecke B (1995) Rectal suction biopsy: can it be sufficient to diagnose neuronal intestinal dysplasia? Eur J Pediatr Surg 5:277–279CrossRefPubMed
12.
Cusick EL, Buick RG (1995) Injury to the common iliac artery during suction rectal biopsy. J Pediatr Surg 30:111–112CrossRefPubMed
13.
14.
Alizai NK, Batcup G, Dixon MF, Stringer MD (1998) Rectal biopsy for Hirschsprung’s disease: what is the optimum method? Pediatr Surg Int 13:121–124CrossRefPubMed
15.
Kobayashi H, Li Z, Yamataka A, Lane GJ, Miyano T (2002) Rectal biopsy: what is the optimal procedure? Pediatr Surg Int 18:753–756CrossRefPubMed
16.
Ali AE, Morecroft JA, Bowen JC, Bruce J, Morabito A (2006) Wall or machine suction rectal biopsy for Hirschsprung’s disease: a simple modified technique can improve the adequacy of biopsy. Pediatr Surg Int 22:681–682CrossRefPubMed
17.
Hall NJ, Kufeji D, Keshtgar A (2009) Out with the old and in with the new: a comparison of rectal suction biopsies with traditional and modern biopsy forceps. J Pediatr Surg 44:395–398CrossRefPubMed
18.
Pini-Prato A, Carlini C, Pesce F, Jasonni V, Seymandi P (2011) Massive bleeding after rectal suction biopsy: uncommon and unexpected delayed onset. World J Pediatr 7:83–85CrossRefPubMed
19.
Hayes CE, Kawatu D, Mangray S, LeLeiko NS (2012) Rectal suction biopsy to exclude the diagnosis of Hirschsprung disease. J Pediatr Gastroenterol Nutr 55:268–271CrossRefPubMed
20.
Dahshan A (2014) Serious rectal bleeding complicating suction rectal biopsy in a child. W V Med J 110:34–35PubMed
21.
Pini-Prato A, Martucciello G, Jasonni V (2001) Solo-RBT: a new instrument for rectal suction biopsies in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 36:1364–1366CrossRefPubMed
22.
Martucciello G, Pini Prato A, Puri P et al (2005) Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung’s disease and related neurocristopathies. J Pediatr Surg 40:1527–1531CrossRefPubMed
23.
Campeotto F, Barbet PJ, Kalach N et al (2011) Deeper rectal biopsies and better yield of neuronal structures with Scheye vs Noblett forceps—preliminary results. J Pediatr Surg 46:478–481CrossRefPubMed
24.
Hirose R, Hirata Y, Yamada T, Kawana T, Taguchi T, Suita S (1993) The simple technique of rectal mucosal biopsy for the diagnosis of Hirschsprung’s disease. J Pediatr Surg 28:942–944CrossRefPubMed
25.
Nakao M, Suita S, Taguchi T, Hirose R, Shima Y (2001) Fourteen-year experience of acetylcholinesterase staining for rectal mucosal biopsy in neonatal Hirschsprung’s disease. J Pediatr Surg 36:1357–1363CrossRefPubMed
26.
Budianto IR, Obata S, Kinoshita Y et al (2015) Reevaluation of acetylcholinesterase staining for the diagnosis of Hirschsprung disease and allied disorders. J Pediatr Gastroenterol Nutr 60:606–612CrossRefPubMed
27.
Borchard F, Meier-Ruge W, Wiebecke B et al (1991) Innervationsstörungen des Dickdarms. Klassifikation und Diagnostik. Pathologe 12:171–174PubMed
28.
de Arruda Toledo, Lourenção PL, Terra SA, Ortolan EV, Rodrigues MA (2016) Intestinal neuronal dysplasia type B: a still little known diagnosis for organic causes of intestinal chronic constipation. World J Gastrointest Pharmacol Ther 7:397–405CrossRef
29.
Aldridge RT, Campbell PE (1968) Ganglion cell distribution in the normal rectum and anal canal. A basis for the diagnosis of Hirschsprung’s disease by anorectal biopsy. J Pediatr Surg 3:475–490CrossRefPubMed
30.
Venugopal S, Mancer K, Shandling B (1981) The validity of rectal biopsy in relation to morphology and distribution of ganglion cells. J Pediatr Surg 16:433–437CrossRefPubMed
31.
Kume K, Tanaka K, Inokuchi K (1971) Clinicopathological and basic study on diagnosis and pathogenesis of Hirschsprung’s disease. J Jpn Soc Pediatr Surg 6:479–497 (in Japanase)
32.
Karnovsky MJ, Roots L (1964) A “direct-coloring” thiocholine method for cholinesterases. J Histochem Cytochem 12:219–221CrossRefPubMed
33.
Nakamura T, Torigoe K (1981) A new method for enhancing contrast of Hatchett’s brown at the sites of acetylcholinesterase activity by rubeanic acid. Acta Histochem Cytochem 14:67CrossRef
34.
Moore SW, Johnson G (2005) Acetylcholinesterase in Hirschsprung’s disease. Pediatr Surg Int 21:255–263CrossRefPubMed
35.
Meier-Ruge W, Lutterbeck PM, Herzog B, Morger R, Moser R, Schärli A (1972) Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 7:11–17CrossRefPubMed
36.
Meier-Ruge W, Bruder E (2008) Histopathological diagnosis and differential diagnosis of Hirschsprung’s disease. In: Holschneider AM, Puri P (eds) Hirschsprung’s disease and allied disorders. Springer, Berlin, pp 185–197CrossRef
37.
Friedmacher F, Puri P (2013) Classification and diagnostic criteria of variants of Hirschsprung’s disease. Pediatr Surg Int 29:855–872CrossRefPubMed
38.
Taguchi T, Kobayashi H, Kanamori Y (2014) Isolated intestinal neuronal dysplasia Type B (IND-B) in Japan: results from a nationwide survey. Pediatr Surg Int 30:815–822CrossRefPubMed
39.
Friedmacher F, Puri P (2015) Rectal suction biopsy for the diagnosis of Hirschsprung’s disease: a systematic review of diagnostic accuracy and complications. Pediatr Surg Int 31:821–830CrossRefPubMed
40.
Shandling B, Auldist AW (1972) Punch biopsy of the rectum for the diagnosis of Hirschsprung’s disease. J Pediatr Surg 7:546–552CrossRefPubMed
41.
Hirsch BZ, Angelides AG, Goode SP, Garb JL (2011) Rectal biopsies obtained with jumbo biopsy forceps in the evaluation of Hirschsprung disease. J Pediatr Gastroenterol Nutr 4:429–432CrossRef
42.
Friedmacher F, Puri P (2016) Current practice patterns of rectal suction biopsy in the diagnostic work-up of Hirschsprung’s disease: results from an international survey. Pediatr Surg Int 32:717–722CrossRefPubMed
43.
Knowles CH, De Giorgio R, Kapur RP et al (2010) The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group. Gut 59:882–887CrossRefPubMed
44.
Kapur RP (2009) Practical pathology and genetics of Hirschsprung’s disease. Semin Pediatr Surg 18:212–223CrossRefPubMed
45.
Muise ED, Cowles RA (2016) Rectal biopsy for Hirschsprung’s disease: a review of techniques, pathology, and complications. World J Pediatr 12:135–141CrossRefPubMed
46.
Nagashima T, Konishi F, Sato T, Sato T, Makino S, Kanazawa K (1998) Hirschsprung’s disease in an adult patient with familial occurrence: report of a case. Surg Today 28:943–947CrossRefPubMed
47.
Miyamoto M, Egami K, Maeda S et al (2005) Hirschsprung’s disease in adults: report of a case and review of the literature. J Nippon Med Sch 72:113–120CrossRefPubMed
48.
Qiu JF, Shi YJ, Hu L, Fang L, Wang HF, Zhang MC (2013) Adult Hirschsprung’s disease: report of four cases. Int J Clin Exp Pathol 6:1624–1630PubMedPubMedCentral
49.
50.
Zeng M, Amodio J, Schwarz S, Garrow E, Xu J, Rabinowitz SS (2013) Hirschsprung disease presenting as sigmoid volvulus: a case report and review of the literature. J Pediatr Surg 48:243–246CrossRefPubMed
51.
López Ruiz JA, Tallón Aguilar L et al (2016) Hirschsprung disease with debut in adult age as acute intestinal obstruction: case report. Rev Esp Enferm Dig 11:108
52.
Ranjan A, Jain V, Sharma S, Gupta DK (2016) Sigmoid volvulus: an uncommon complication of Hirschsprung’s disease. BMJ Case Rep 26:2016
Metadata
Title
The evaluation of rectal mucosal punch biopsy in the diagnosis of Hirschsprung’s disease: a 30-year experience of 954 patients
Authors
Koichiro Yoshimaru
Yoshiaki Kinoshita
Yusuke Yanagi
Satoshi Obata
Takahiro Jimbo
Tsuyoshi Iwanaka
Yoshiaki Takahashi
Genshiro Esumi
Junko A. Miyata
Toshiharu Matsuura
Tomoko Izaki
Tomoaki Taguchi
Publication date
01-02-2017
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Surgery International / Issue 2/2017
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI
https://doi.org/10.1007/s00383-016-4010-2

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