Ganglion Cells Are Frequently Present in Pediatric Mucosal Colorectal Biopsies: H&E Sections and Calretinin Immunohistochemistry in the Evaluation of Children With Chronic Constipation

2017 ◽  
Vol 21 (1) ◽  
pp. 48-53
Author(s):  
Alexandra E Kovach ◽  
M Cristina Pacheco
Keyword(s):  
Chronic Constipation ◽  
Ganglion Cells ◽  
Single Case ◽  
Hirschsprung Disease ◽  
Clinical Indication ◽  
Muscularis Mucosa ◽  
Older Children ◽  
Anatomic Site ◽  
Colorectal Biopsies ◽  
Work Up

Hirschsprung disease (HD) rarely presents as chronic constipation after the newborn period. At our institution, calretinin immunohistochemistry (CAL) is frequently requested by clinicians on rectal mucosal biopsies (RMBs) taken during colonoscopy in older children in whom suspicion for HD is low. We hypothesized that review of these biopsies would frequently reveal ganglion cells (GCs). We reviewed features of mucosal biopsies (November 2013 to September 2015) from children ≥1 year of age on which clinicians had requested CAL on at least one specimen. A total of 93 biopsies with paired CAL from 83 patients were suitable for study (ages 1–18 years, M:F 1.2). Submitted clinical indication was constipation in 62 patients (75%). GCs were found within or subjacent to muscularis mucosa in 63 biopsies (68%), 12 (19%) of which were designated from a specific anatomic site, eg, 2 or 3 cm. In 25 of 63 (40%) cases, GCs were identified on one of the first 3 sections (median 5th, range 1st–54th). Forty-six cases (73%) contained no or <0.5 mm of submucosa (SM, range 0–2 mm). All but one case (62/63, 98%) with identified GCs showed positive CAL staining; a single case showed equivocal staining. Among the 30 biopsies with no observed GCs, none (0%) had >1 mm of SM, and 21 (70%) had no SM. CAL was positive in 28 (93%) and equivocal/weak in 2 (7%); no additional work-up for HD was pursued. The data suggest that H&E sections of RMBs can exclude HD at a specified site in many cases and provide the basis for a future study examining the utility of CAL in RMBs without SM as a means for excluding HD.

Histochemical Diagnosis of Hirschsprung Disease

PEDIATRICS ◽  
1982 ◽  
Vol 69 (6) ◽  
pp. 755-761
Author(s):  
Carolyn Coker Huntley ◽  
Louis deS. Shaffner ◽  
Venkata R. Challa ◽  
Anne D. Lyerly
Keyword(s):  
Lamina Propria ◽  
False Positive ◽  
Ganglion Cells ◽  
False Negative ◽  
Hirschsprung Disease ◽  
Nerve Fibers ◽  
Infants And Children ◽  
Muscularis Mucosa ◽  
False Positive Reactions ◽  
In Infants And Children

A histochemical staining technique for detection of acetylcholinesterase (AChE) in rectal suction biopsies was compared with the presence or absence of ganglion cells in full-thickness or suction biopsies for the diagnosis of Hirschsprung disease (HD) in infants and children. Biopsies from 55 of 58 children were adequate for both the AChE assay and routine pathologic examination for ganglion cells. Two patterns of AChE staining were noted. With pattern A, prominent nerve fibers staining for AChE were seen throughout the muscularis mucosa and the lamina propria. With pattern B, similar fibers were seen only in the muscularis mucosa and the areas of lamina propria that were immediately adjacent. No "false-negative" AChE staining reactions were found in patients with HD. No "false-positive" reactions showing pattern A were found. This pattern was diagnostic for HD. Three false-positive reactions were found showing pattern B in patients with conditions other than HD. Among 22 patients with HD, 19 were males and three were females. Pattern A occurred in all age groups and in both sexes. Pattern B in patients with HD was seen exclusively in male infants 1 month of age or less. Experience suggests that the AChE staining of rectal suction biopsies is an excellent screening test for HD in infants and children. If pattern B is encountered, however, the specimen should be examined by routine pathologic techniques for the presence of submucosal ganglion cells.

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.

Idiopathic megacolon and megarectum in an adult treated with laparoscopic modified Duhamel procedure

2021 ◽  
Vol 14 (6) ◽  
pp. e240209
Author(s):  
Maureen Elvira Padernal Villanueva ◽  
Marc Paul Jose Lopez ◽  
Mark Augustine S Onglao
Keyword(s):  
Emergency Department ◽  
Chronic Constipation ◽  
Ganglion Cells ◽  
Rectal Biopsy ◽  
Full Thickness ◽  
Postoperative Course ◽  
Idiopathic Megacolon ◽  
Duhamel Procedure ◽  
Idiopathic Megarectum ◽  
Sigmoid Loop Colostomy

Idiopathic megacolon (IMC) and idiopathic megarectum (IMR) describe an abnormality of the colon or rectum, characterised by a permanent dilatation of the bowel diameter in the absence of an identifiable cause. We present a 23-year-old woman with chronic constipation and excessive straining during defecation who presented at the emergency department in partial gut obstruction with a palpable fecaloma. Manual faecal disimpaction and a sigmoid loop colostomy was initially done. A full thickness rectal biopsy was positive for ganglion cells. Further workup led to the diagnosis of chronic IMC and IMR. The patient underwent laparoscopic modified Duhamel procedure, with an uneventful postoperative course.

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.

COMMENTS ON THE PANEL DISCUSSION OF COLIC

PEDIATRICS ◽  
1956 ◽  
Vol 18 (5) ◽  
pp. 839-840
Author(s):  
Bret Ratner
Keyword(s):  
Gastrointestinal Tract ◽  
Subject Matter ◽  
Intestinal Tract ◽  
Panel Discussion ◽  
Great Influence ◽  
Proper Solution ◽  
Older Children ◽  
Canned Foods ◽  
The Subject ◽  
Work Up

Dr. Glaser requested me to summarize the subject matter presented at this panel. In his opening remarks Dr. Glaser implied that the broad pediatric attitude rather than the purely allergic approach towards the subject of colic would be stressed. I do believe that this has been achieved. It should be obvious that it is not always wise to refer a colicky baby for an allergic work-up. I am certain that if the pediatric allergist did have such an infant referred to him, he would have to muster all his general pediatric knowledge to effect the proper solution. It appears to me that if the colicky baby has a basic allergic cause for his intestinal spasms the increased use of heat-denatured foods, such as certain of the proprietary modified cow's milk formulas, and other heat denatured milks, hard boiled eggs (in those few instances in which the infant is not sensitive to ovomucoid), either precooked cereals which are marketed today or cereals that are thoroughly cooked at home, and precooked canned foods, would have had a great influence in reducing the incidence of colic in infants. Some of this audience may not believe that the incidence of colic has been reduced. Dr. Fries has shown in a very fine study of the intestinal tract through a roentgenographic technic that true spasms may occur in any part of the gastrointestinal tract when food to which the child is sensitive is introduced orally. He studied only older children who were proved to be sensitive by skin test.

Hirschsprung Disease

1989 ◽  
Vol 10 (7) ◽  
pp. 207-223
Keyword(s):  
Intestinal Obstruction ◽  
Chronic Constipation ◽  
Neonatal Period ◽  
Hirschsprung Disease ◽  
Fecal Impaction ◽  
Intractable Diarrhea ◽  
Live Births ◽  
History Of ◽  
Spontaneous Evacuation ◽  
Intestinal Aganglionosis

Intestinal aganglionosis (Hirschsprung disease) has an incidence of one in 5,000 live births. It is being recognized with greater frequency during the neonatal period when it must be distinguished from other causes of intestinal obstruction. The diagnosis of Hirschsprung disease is most often considered in the infant or child with chronic constipation since birth. A history of delayed passage of meconium may be obtained, and the infant may have no spontaneous evacuation of feces without stimulation. Less commonly, intractable diarrhea secondary to enterocolitis may be the finding. Clinical features suggestive of Hirschsprung disease include increased anal sphincter tone and empty rectum despite the presence of fecal impaction.

Developmental markers of ganglion cells in the enteric nervous system and their application for evaluation of Hirschsprung disease

2014 ◽  
Vol 64 (9) ◽  
pp. 432-442 ◽  
Author(s):  
Hitomi Kawai ◽  
Kaishi Satomi ◽  
Yukio Morishita ◽  
Yoshihiko Murata ◽  
Masato Sugano ◽  
...  
Keyword(s):  
Nervous System ◽  
Enteric Nervous System ◽  
Ganglion Cells ◽  
Hirschsprung Disease

scholarly journals Long-term Outcomes of Patients Surgically Treated for Hirschsprung Disease

2020 ◽  
Author(s):  
Ahmed Nasr ◽  
Viviane Grandpierre ◽  
Katrina J Sullivan ◽  
Coralie A Wong ◽  
Eric I Benchimol
Keyword(s):  
Chronic Constipation ◽  
Chronic Diarrhea ◽  
Conditional Logistic Regression ◽  
Hirschsprung Disease ◽  
Older Age ◽  
Long Term Outcomes ◽  
Increased Risk ◽  
Age At Surgery ◽  
Region Of Residence

Abstract Background The only curative treatment for Hirschsprung disease (HD) is surgical repair. However, some patients experience poor postoperative outcomes. We determined long-term outcomes of all HD patients in Ontario, Canada’s most populous province. Methods We conducted a retrospective cohort study including all children with HD born between April 1, 1991 and March 31, 2014 in Ontario using linked health administrative data. Each HD case was matched to five non-HD controls on sex, date of birth, region of residence and income and followed to March 31, 2016. Chronic diarrhea and constipation were identified using combinations of outpatient physician billing codes in both HD patients and non-HD residents of the province. We determined risk factors associated with diarrhea and constipation, including surgery type and sociodemographic characteristics, using multivariable conditional logistic regression, and reported adjusted odds ratios (aORs). Results There were 3,265,172 children born in the study period, of whom 673 had HD. Compared to controls, chronic constipation was more common in HD patients (27.5% versus 2.1%; aOR 17.2, 95% CI 12.6 to 23.4), as was chronic diarrhea (29.9% versus 6.9%, aOR 5.22, 95% CI 4.19 to 6.50). In HD patients, older age at surgery was associated with increased risk of chronic constipation (OR 2.71, 95% CI 1.75 to 4.20). Surgery type, sex, rural/urban residence and income were not associated with risk of chronic constipation or diarrhea. Conclusion Chronic constipation and diarrhea were common following surgery for HD. Older age at surgery was associated with subsequent risk of chronic constipation. Surgery type was not associated with increased risk of chronic constipation or diarrhea.

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