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.

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

PEDIATRICS ◽  
1979 ◽  
Vol 63 (5) ◽  
pp. 805-808
Author(s):  
Thomas E. Wiswell ◽  
James S. Rawlings ◽  
James L. Wilson ◽  
Gary Pettett
Keyword(s):  
Neonatal Period ◽  
Ganglion Cells ◽  
Plain Film ◽  
Rectal Biopsy ◽  
Exploratory Laparotomy ◽  
Nerve Fibers ◽  
Bladder Obstruction ◽  
Distended Abdomen ◽  
Biopsy Specimens ◽  
Hypoperistalsis Syndrome

The syndrome of megacystis-microcolon-intestinal hypoperistalsis has been reported in a total of seven female infants. Massive abdominal distention secondary to a distended urinary Fig 1. Plain film of markedly distended abdomen with no air beyond stomach. Stomach is displaced upward toward left. der was the major presenting characteristic. Iutestinal hypoperistalsis, apparent in the early neonatal period, persists without improvement. Exploratory laparotomy reveals malrotation and malfixation of a small microcolon. No anatomic cause of intestinal or bladder obstruction can be found. Intestinal and/or rectal biopsy specimens contain abundant ganglion cells and nerve fibers. The outcome has been uniformly fatal, with survival in the reported cases ranging from two days to 34 months.

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.

scholarly journals Cajal cells and post-surgical dismotility in Hirschsprung disease

2019 ◽  
Author(s):  
Juliana de Oliveira Ribeiro ◽  
Elizete Aparecida Lomazi ◽  
Joaquim Murray Bustorff Silva ◽  
Rita Barbosa de Carvalho ◽  
Lucas Rocha Alvarenga ◽  
...  
Keyword(s):  
Nervous System ◽  
Smooth Muscle ◽  
Synaptic Connection ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Distal Colon ◽  
Submucosal Plexus ◽  
Cajal Cells ◽  
Postoperative Symptoms

Hirschsprung disease (HD) is characterised by the absence of ganglion cells in myenteric and submucosal plexus in the distal colon in its classical form. As a consequence intestinal motility dysfunction occurs, the clinical picture resembles structural obstruction. Diagnosis of aganglionosis is performed by rectal biopsy and treatment is surgical by removing the aganglionosis portion. Intersticial Cajal cells modulate the motor function of smooth muscle cells by the synaptic connection with the enteric nervous system. The identification of the numeric decrease of these cells in the ganglionic intestinal portion in the HD allowed elaborating the hypothesis that numeric reduction of Cajal cells may cause symptoms of post-surgical intestinal dysmotility.The present study tryed to verify this hypothesis, by identifying an association between post-surgical complications and number of Cajal cells in the ganglionic segment.Medical records and histological samples of patients in post-surgical HD status and followed at Unicamp Clinics Hospital, operated from 2001 to 2014, were re-examined. Immunohistochemistry for Cajal cells were performed in order to count cells number and were compared to historical values found in healthy adults.Although most of the cases present a number of low-ICC, the count of these ganglion cells segment is not associated with the occurrence of postoperative symptoms. The findings of this survey are similar to other studies with similar methodology.

scholarly journals Are We Underdiagnosing Hirschsprung Disease?

2019 ◽  
Vol 23 (1) ◽  
pp. 60-71
Author(s):  
Raj P Kapur ◽  
Lusine Ambartsumyan ◽  
Caitlin Smith
Keyword(s):  
Transition Zone ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Cholinergic Innervation ◽  
Short Segment ◽  
Recent Improvement ◽  
Recent Trends ◽  
Mucosal Innervation ◽  
Rectal Biopsies

Hirschsprung disease (HSCR) is conventionally defined as aganglionosis of the distal rectum and a variable length of proximal contiguous bowel with a transition zone of ganglionic, but neuroanatomically abnormal, bowel located immediately upstream. Recent improvement in our understanding of the pathology and genetics of HSCR and relevant animal models indicates highly variable expressivity. The spectrum of intestinal neuropathology includes patients with very short-segment aganglionosis, limited to the distal 1 to 2 cm of the rectum, and possibly patients with no true aganglionic segment, but nonphysiological transition zone pathology in their distal rectums. The presence or absence of submucosal ganglion cells in a rectal biopsy is not sufficient to exclude these patients, in whom submucosal nerve hypertrophy and/or abnormal cholinergic mucosal innervation may be the only diagnostic clues. In addition, diagnosis or exclusion of HSCR by rectal biopsy now relies in part on mucosal patterns of calretinin immunohistochemistry, with less emphasis on submucosal tissue adequacy and assessment of cholinergic innervation. These recent trends in the surgical pathology approach to rectal biopsies may miss patients at the phenotypically milder end of the malformation spectrum, with profound implications for subsequent management, prognosis, and genetic counseling.

Characterization of the Transition Zone in Short Segment Hirschsprung Disease Using Calretinin Immunostaining

2021 ◽  
pp. 109352662110539
Author(s):  
Franziska Righini-Grunder ◽  
Dorothée Bouron-Dal Soglio ◽  
Lara Hart ◽  
Ann Aspirot ◽  
Christophe Faure ◽  
...  
Keyword(s):  
Transition Zone ◽  
Ganglion Cells ◽  
Short Form ◽  
Hirschsprung Disease ◽  
Nerve Fibers ◽  
Normal Density ◽  
Short Segment ◽  
Pull Through ◽  
Distal Border ◽  
Proximal Border

Introduction: The detailed expression pattern of calretinin immunohistochemistry in the transition zone (TZ) of Hirschsprung disease (HSCR) has not yet been reported. This study aims to examine the value of calretinin immunohistochemistry for more accurately determining the distal and proximal border of the TZ in short segment HSCR. Methods: Specimens of pull-through surgery from 51 patients with short form of HSCR were analyzed on two longitudinal strips using hematoxylin and eosin (H&E) staining and calretinin immunohistochemistry. Results: In all but two patients, the first appearance of calretinin expression was seen on mucosal nerve fibers before the appearance of any ganglion cells, indicating the distal border of the TZ. The maximum distance between the distal border of the TZ and the proximal border of the TZ, defined by ganglion cells in a normal density on H&E stained sections, a strong calretinin expression on mucosal nerve fibers and in >80% of submucosal and myenteric ganglion cells, with no nerve hypertrophy and absence of ganglionitis was 60 mm. Conclusion: The distal border of the TZ is characterized by calretinin positive intramucosal neurites in nearly all of short form of HSCR and not by calretinin expression on ganglion cells.

Safety and Accuracy of Suction Rectal Biopsy in Preterm Infants

2020 ◽  
Author(s):  
Yanan Zhang ◽  
Jinshi Huang ◽  
Yongwei Chen ◽  
Shen Yang ◽  
Yichao Gu ◽  
...  
Keyword(s):  
Preterm Infants ◽  
Gestational Age ◽  
Clinical Characteristics ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Late Preterm Infants ◽  
Suction Rectal Biopsy ◽  
Pull Through

Abstract Purpose: Little attention were paid in the diagnosis of preterm infants with Hirschsprung disease (HD) in most pediatric surgeons. We aimed to explore the safety and accuracy of suction rectal biopsy (SRB) in preterm infants.Methods: A retrospective review was conducted on 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 followed 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 to 36.9 weeks) while the median gestational age at biopsy was 38.6 weeks (range: 33.4 to 60.0 weeks), and the median weight was 2790 g (range: 1580 to 4100 g). Fifteen cases (33.3%) were positive for HD which were confirmed after the pull-through surgery. The ganglion cells presented on 30 cases. And the diagnosis of HD was excluded in 29 patients after discharge follow-up. The sensitivity was supposed to be 93.7%-100% and specificity was 100%. Among the patients whose biopsy age is < 37 weeks (10 cases) or biopsy weight is < 2000 g (5 cases), no complications occurred after SRB.Conclusion: SRB is safe and accurate in late preterm infants.

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.

At What Age Is a Suction Rectal Biopsy Less Likely to Provide Adequate Tissue for Identification of Ganglion Cells?

2007 ◽  
Vol 44 (2) ◽  
pp. 198-202 ◽  
Author(s):  
Joseph M Croffie ◽  
Mary M Davis ◽  
Philip R Faught ◽  
Mark R Corkins ◽  
Sandeep K Gupta ◽  
...  
Keyword(s):  
Ganglion Cells ◽  
Rectal Biopsy ◽  
Suction Rectal Biopsy ◽  
Adequate Tissue

Circumferential Distribution of Ganglion Cells in the Transition Zone of Children with Hirschsprung Disease

2000 ◽  
Vol 3 (3) ◽  
pp. 216-222 ◽  
Author(s):  
Frances V. White ◽  
Jacob C. Langer
Keyword(s):  
Transition Zone ◽  
Myenteric Plexus ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Leading Edge ◽  
Marked Contrast ◽  
Surgical Specimen ◽  
Study Population ◽  
Circumferential Distribution ◽  
Pull Through

We prospectively studied the circumferential distribution of ganglion cells in the transition zone from a study population of 21 patients with Hirschsprung disease (HD) undergoing a pull-through procedure over a 26-month period. Twelve cases were satisfactory for examination, in that the transition zone was contained within a single surgical specimen and specimen distortion was minimal. Ganglion cells in the submucosa were counted in all 12 cases. In seven of the cases, the transition zone was proximal to the rectal sleeve and myenteric plexus ganglion cells were also counted. We found an uneven circumferential distribution of ganglion cells in both myenteric plexus and submucosa of the transition zone, resulting in a “leading edge” of ganglion cells extending into aganglionic distal bowel. The maximum length of this leading edge was 2.4 cm and 2.1 cm in the myenteric plexus and submucosa, respectively. Ganglion cells at the tip of the leading edge were present in clusters of up to six ganglion cells, in marked contrast to an absence of ganglion cells for most of the remainder of the circumference. Closely spaced myenteric plexus ganglia were seen at the tip of the leading edge in some cases. The leading edge was more frequently observed along the antimesenteric side, but this was not statistically significant. Our findings have relevance in the interpretation of intraoperative biopsies at the time of pull-through surgery and subsequent biopsies of neorectum in patients with surgically corrected HD.

Image Processing and Analysis of Mucosal Calretinin Staining to Define the Transition Zone in Hirschsprung Disease: A Pilot Study

2018 ◽  
Vol 29 (02) ◽  
pp. 179-187 ◽  
Author(s):  
Saleh Najjar ◽  
Sangtae Ahn ◽  
Israel Kasago ◽  
Chunlai Zuo ◽  
Kavita Umrau ◽  
...  
Keyword(s):  
Image Processing ◽  
Transition Zone ◽  
Hirschsprung Disease ◽  
Continuous Variable ◽  
Nerve Fibers ◽  
Image Processing And Analysis ◽  
Visual Scoring ◽  
The Mean ◽  
Pull Through ◽  
Proximal Resection Margin

Purpose Quantification of calretinin-stained mucosal nerve fibers by image processing and analysis (IPA) may objectively define the transition zone (TZ) of Hirschsprung disease (HD). We tested the utility of IPA as an adjunctive tool in HD. Materials and Methods Calretinin immunostain was performed on 15 HD pull-through specimens, and multiple images were captured from the proximal aganglionic zone, TZ, and probable normal zone (NZ). Pixel count (PC), defined as the percentage of brown-stained pixels in the mucosa, was quantified and plotted against distance from the rectal distal end. To validate the method, PCs from 45 images were compared with three-tiered visual scoring by five pathologists. Results were correlated against pertinent variables, which were retrieved from the clinical record. Results The PC gradually increased in the TZ toward the proximal resection margin in 10/13 (77%) cases. The PC variation in the probable NZ and around the circumference was substantial by the coefficient of variation. The mean PC of images with a visual score of 1 was less than scores of 2 and 3 by all five (100%) pathologists (p < 0.01). One patient had possible TZ pull-through that was clinically confirmed. Conclusion While the mucosal calretinin staining gradually increases in the TZ, for now, the boundaries of the TZ cannot be accurately defined by mucosal biopsies given the substantial variation of staining around the circumference at the same distance and in the NZ. However, the IPA technique does provide a continuous variable and warrants further utility in HD studies.

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