Rectal Biopsy Technique for the Diagnosis of Hirschsprung Disease in Children

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Giovana Tuccille Comes ◽  
Erika Veruska Paiva Ortolan ◽  
Maressa Maria de Medeiros Moreira ◽  
Wilson Elias de Oliveira Junior ◽  
Marcos Curcio Angelini ◽  
...  
Keyword(s):  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Biopsy Technique

scholarly journals Image of the Month: Decision-Making in Surgery for Late Onset Hirschsprung Disease

2020 ◽  
Vol 08 (01) ◽  
pp. e99-e101
Author(s):  
Anisha Apte ◽  
Elise McKenna ◽  
Marc A. Levitt
Keyword(s):  
Decision Making ◽  
Chronic Constipation ◽  
Anorectal Manometry ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Poor Growth

AbstractWe present a case of a 14-year-old boy with chronic distension, poor growth, and chronic constipation. He undergoes anorectal manometry and rectal biopsy, confirming the diagnosis of Hirschsprung disease (HD). The case is presented with a key image and associated questions to prompt discussion on strategies for management and treatment of HD in late-diagnosed children.

Autopsy Study of Calretinin Immunohistochemistry in the Anorectal Canal in Young Infants and Potential Implications for Rectal Biopsy Approach in the Neonatal Period

2021 ◽  
pp. 109352662110301
Author(s):  
Heather Rytting ◽  
Zachary J Dureau ◽  
Jose Velazquez Vega ◽  
Beverly B Rogers ◽  
Hong Yin
Keyword(s):  
Neonatal Period ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Autopsy Study ◽  
Pathologic Diagnosis ◽  
Young Infants ◽  
Autopsy Specimens ◽  
Pectinate Line ◽  
Age Range

Background Absent submucosal ganglion cells in biopsies 1-3 cm above the pectinate line establishes the pathologic diagnosis of Hirschsprung Disease (HD). Calretinin stains both ganglion cells and their mucosal neurites and has gained importance in HD diagnosis. Absent calretinin positive mucosal neurites in biopsies at the appropriate level above the pectinate line is highly specific for HD. Whether this applies to lower biopsies is uncertain. To address this, we studied anorectal canal autopsy specimens from infants. Methods We performed an autopsy study of infant anorectal canal specimens to describe calretinin staining in this region. Calretinin staining was correlated with histologic and gross landmarks. Results In all 15 non-HD specimens, calretinin positive mucosal neurites were present in glandular mucosa up to the anorectal line where neurites rapidly diminished. Age range was preterm 26 weeks to 3 months. Conclusions Calretinin positive mucosal neurites are present in glandular mucosa up to the anorectal line in young infants. This is potentially important regarding neonatal HD biopsy level and diagnosis. Positive calretinin staining at the anorectal line favors normal innervation making HD unlikely. Absent calretinin positive neurites in glandular mucosa is worrisome for HD in young infants, regardless of location.

Total Colonic Aganglionosis: Case Report, Practical Diagnostic Approach and Pitfalls

2010 ◽  
Vol 134 (10) ◽  
pp. 1467-1473 ◽  
Author(s):  
Raja Rabah
Keyword(s):  
Transition Zone ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Nerve Fibers ◽  
Submucosal Plexus ◽  
Total Colonic Aganglionosis ◽  
Biopsy Specimens ◽  
Suction Rectal Biopsy ◽  
Acetylcholinesterase Staining

Abstract Hirschsprung disease remains a challenging diagnosis for many pathologists. The disease is characterized by a lack of ganglion cells in the myenteric and submucosal plexus, associated with increased numbers of acetylcholinesterase-positive nerve fibers. Hypertrophic nerve fibers are present in most but not all patients. Total colonic aganglionosis (TCA) is an uncommon form of Hirschsprung disease with clinical, histologic, and genetic differences and is even more difficult to diagnose and manage. This case illustrates some of the difficulties frequently faced by the pathologists dealing with total colonic aganglionosis. Suction rectal biopsy specimens often lack significant nerve hypertrophy and positive acetylcholinesterase staining, which aid in the diagnosis. Pathologists have to depend mainly on the lack of ganglion cells in adequate submucosa to establish the diagnosis. Transition zone is often long in total colonic aganglionosis and interpretation of frozen sections can be difficult. The presence of several uniformly distributed clusters of mature ganglion cells and lack of nerve hypertrophy are required to avoid connections at the transition zone.

Results of the Surgical Treatment in Children with Hirschprung Disease: A 12-Year Experience

2021 ◽  
Author(s):  
Ceren Cesur ◽  
Ayşenur Celayir
Keyword(s):  
Surgical Treatment ◽  
Complication Rate ◽  
Operative Procedure ◽  
Surgical Techniques ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
X Rays ◽  
Surgical Methods ◽  
Pull Through ◽  
Subacute Intestinal Obstruction

Objective: In the treatment of Hirschsprung’s disease, many surgical techniques have been developed and modified including laparotomy, resection of the affected colon segment, and pull-through of the functional bowel segment to the anus. Conventional surgical methods have many early and late postoperative complications, albeit at a reduced rate today. In this study, it was aimed to compare the treatment results of children with Hirschsprung Disease who were operated with single or two-stage techniques in our department. Method: Hospital records of the patients operated for Hirschsprung disease were retrospectively evaluated. Demografic characteristics, findings of physical and rectal examinations, X-rays findings, rectal biopsy results, surgical treatment methods and outcomes were analyzed. Results: Fifty-two children including 41-male (78.8%) and 11-female (21.2%) patients with age ranging from 1-day to 5-year and mean age of 6.8-day in neonates and 6.3-month in others were enrolled in the study. All patients presented with acute or subacute intestinal obstruction. Levels were observed on supine abdominal radiographs in all; transition zone and retention of opaque material were observed on opaque enema or retention radiographs.In patients whose rectal biopsies revealed aganglionic megacolon two staged procedures were performed including initial colostomy followed by definitive procedure of Duhamel with stapler in 30, and Soave in 12, and Swenson in 1 patient. Nine patients were operated with one-stage endorectal pull-through technique. The complication rate in 43 patients with Hirschsprung disease managed by two staged operative procedure was (78.8%), and it was 11.1% in 9 cases that underwent transanal endorectal pullthrough procedure. It was learned that effective anal dilatation was not performed in 22-patients who had postoperative enterocolitis attacks. Conclusion: In addition to the low complication rate, the morbidity rates in the transanal endorectal pull-through method, which achieved successful results with only one procedure, were very low compared to multiple-stage operations.

Double check: diagnosis and management of adult Hirschsprung disease

2021 ◽  
Vol 14 (6) ◽  
pp. e239532
Author(s):  
Niamh Moynagh ◽  
Ailin C Rogers ◽  
Cian Muldoon ◽  
Paul H McCormick
Keyword(s):  
Low Anterior Resection ◽  
Coloanal Anastomosis ◽  
Loop Ileostomy ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Motility Disorder ◽  
Left Colon ◽  
Final Histology ◽  
Bowel Movements ◽  
Histological Confirmation

Hirschsprung disease (HD) is a gut motility disorder usually diagnosed acutely in infancy, although variants of HD may present later in life with indolent symptoms. This report highlights the rarity of diagnosing HD and hypoganglionosis in adulthood and the nuances that need consideration for their surgical management. We present a report of a 49-year-old man presenting with chronic constipation. A full thickness rectal biopsy confirmed aganglionosis, and HD in adulthood was diagnosed. He underwent a defunctioning left-sided colostomy to ensure histological confirmation of ganglia in his left colon, and adequate colonic function via the colostomy.This served also as an assessment of the proximal conduit for any future anastomosis. He later underwent ultra-low anterior resection, coloanal anastomosis and loop ileostomy with subsequent reversal. His final histology revealed hypoganglionosis of the resected segment, with normal innervation to the site of the colostomy. He made full recovery with normal bowel movements.

scholarly journals Safety and Accuracy of Suction Rectal Biopsy in Preterm Infants

2021 ◽  
Vol 9 ◽  
Author(s):  
Yanan Zhang ◽  
Yongwei Chen ◽  
Shen Yang ◽  
Yichao Gu ◽  
Kaiyun Hua ◽  
...  
Keyword(s):  
Preterm Infants ◽  
Gestational Age ◽  
Clinical Characteristics ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Late Preterm Infants ◽  
Suction Rectal Biopsy ◽  
Pull Through

Purpose: Most pediatric surgeons give little attention to the diagnosis of Hirschsprung disease (HD) in preterm infants. We aimed to explore the safety and accuracy of suction rectal biopsy (SRB) for diagnosing HD in preterm infants.Methods: A retrospective review was conducted of 45 preterm patients who underwent SRB from 2015 to 2019 in our hospital. We collected the clinical characteristics and pathology results of the patients and information on follow-up. The sensitivity and specificity of SRB for HD diagnosis were calculated.Results: The median gestational age of the patients was 35 weeks (range: 28.9–36.9 weeks), the median gestational age at biopsy was 38.6 weeks (range: 33.4–60.0 weeks), and the median weight was 2,790 g (range: 1,580–4,100 g). Fifteen patients (33.3%) were positive for HD, which was confirmed after pull-through surgery. Ganglion cells were present in 30 patients. The diagnosis of HD was excluded in 29 patients after discharge follow-up. The sensitivity of SRB ranged from 93.7 to 100%, and the specificity was 100%. No complications occurred after SRB among the patients whose biopsy age was <37 weeks (10 patients) or biopsy weight was <2,000 g (five patients).Conclusion: SRB is accurate and safe for diagnosing HD in late preterm infants.

The prevalence of Hirschsprung disease in premature infants after suction rectal biopsy

2013 ◽  
Vol 184 (1) ◽  
pp. 374-377 ◽  
Author(s):  
Nicole E. Sharp ◽  
Janine Pettiford-Cunningham ◽  
Sohail R. Shah ◽  
Priscilla Thomas ◽  
David Juang ◽  
...  
Keyword(s):  
Premature Infants ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Suction Rectal Biopsy
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