Hirschsprung Disease and Use of Calretinin in Inadequate Rectal Suction Biopsies

2013 ◽  
Vol 137 (8) ◽  
pp. 1099-1102 ◽  
Author(s):  
David Hernandez Gonzalo ◽  
Thomas Plesec
Keyword(s):  
Gold Standard ◽  
Clinical Course ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Disease Status ◽  
Nerve Fibers ◽  
Clinical Suspicion ◽  
Muscularis Mucosae ◽  
Hematoxylin Eosin

Context.—Up to 17% of all rectal suction biopsies performed in the evaluation of Hirschsprung disease are considered inadequate. In most instances, inadequate biopsies contain too little submucosa or are taken within the anal transition zone. Objectives.—To examine the utility of calretinin stain in the workup of inadequate biopsies for patients with clinical suspicion of Hirschsprung disease. Design.—A retrospective analysis was conducted of all rectal suction biopsies performed in the evaluation of Hirschsprung disease during the previous 12 years that were considered “inadequate.” Seventeen cases were identified, and Hirschsprung disease status was determined by clinical or surgical follow-up. Immunohistochemistry for calretinin was performed for all cases containing columnar mucosa, which were evaluated without knowledge of clinical course. Results.—All 12 patients without Hirschsprung disease had calretinin-positive nerve fibers in the lamina propria or muscularis mucosae, and all 5 patients with Hirschsprung disease had no calretinin staining of nerves. Conclusions.—In this retrospective series, calretinin immunohistochemistry correctly predicted outcome in all instances. Although the gold standard for the diagnosis of Hirschsprung disease in rectal suction biopsies remains the evaluation of ganglion cells in a hematoxylin-eosin staining with sufficient submucosa, calretinin immunohistochemistry is quite helpful in triaging further workup based on clinical suspicion.

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.

Combined Pleomorphic Xanthoastrocytoma-Ganglioglioma of the Cerebellum

2000 ◽  
Vol 124 (11) ◽  
pp. 1707-1709 ◽  
Author(s):  
Andrew J. Evans ◽  
Imran Fayaz ◽  
Michael D. Cusimano ◽  
Norman Laperriere ◽  
Juan M. Bilbao
Keyword(s):  
Mitotic Activity ◽  
High Power ◽  
Clinical Course ◽  
Ganglion Cells ◽  
Postoperative Radiotherapy ◽  
Pleomorphic Xanthoastrocytoma ◽  
Mitotic Figure ◽  
Total Resection ◽  
Endothelial Proliferation

Abstract Combined pleomorphic xanthoastrocytoma-ganglioma is a rare neoplasm, occurring in patients younger than 30 years. The clinical course of these tumors is difficult to predict because of their rarity. We report a case of combined pleomorphic xanthoastrocytoma-ganglioma that, in addition to the patient's age, is unusual in several respects. The lesion was located in the cerebellar vermis of a 60-year-old man and was radiographically solid. Histologically, there was an admixture of markedly pleomorphic astrocytic cells and neoplastic ganglion cells, with permeation of the overlying leptomeninges and surrounding cerebellum. In addition, there was focal capillary endothelial proliferation. There was no necrosis, and mitotic activity was rare at 1 mitotic figure per 40 high-power fields. The patient underwent a near gross total resection and postoperative radiotherapy and remains well through 16 months of follow-up.

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.

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.

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.

Expression of bcl-2 in Enteric Neurons in Normal Human Bowel and Hirschsprung Disease

1999 ◽  
Vol 123 (12) ◽  
pp. 1264-1268 ◽  
Author(s):  
Tomas Wester ◽  
Yngve Olsson ◽  
Leif Olsen
Keyword(s):  
Ganglion Cells ◽  
Neuron Specific Enolase ◽  
Hirschsprung Disease ◽  
Immunohistochemical Analysis ◽  
Nerve Fibers ◽  
Enteric Neurons ◽  
Normal Colon ◽  
Normal Human ◽  
Immunohistochemical Methods

Abstract Objective.—The bcl-2 protein has the functional role of blocking apoptosis, ie, programmed cell death. This protein is widely expressed in the developing central and peripheral nervous systems. The purpose of this study was to map bcl-2 expression in the human enteric nervous system, as this has not previously been done. Methods.—Rectal specimens were obtained at autopsy of 13 fetuses at 13 to 31 weeks of gestation. Normal colon was also obtained from 5 children and 2 adults, and, in addition, ganglionic and aganglionic bowel resected in 11 patients with Hirschsprung disease was examined. Specimens were fixed in formalin, embedded in paraffin, and analyzed with immunohistochemical methods, using antibodies raised against bcl-2 and neuron-specific enolase (NSE). Results.—The bcl-2 protein was expressed in myenteric and submucous ganglion cells in fetuses, children, and adults. Nerve fibers of the enteric plexuses that were bcl-2 immunoreactive were few compared with the number of NSE-immunoreactive nerve fibers. In aganglionic bowel no bcl-2–or NSE-immunoreactive ganglion cells were revealed. Results of NSE immunohistochemistry showed clearly stained hypertrophic nerve bundles, known to be of extrinsic origin, which were only weakly bcl-2 immunoreactive. Conclusion.—Expression of bcl-2 in enteric ganglion cells of the myenteric and submucous plexuses is displayed in the fetus and during childhood and is also retained in adult bowel. Immunohistochemical analysis of bcl-2 provides a good marker for identification of ganglion cells in Hirschsprung disease and may also be valuable for the diagnosis of disorders characterized by hypoganglionosis or hyperganglionosis.

scholarly journals Acute calcific retropharyngeal tendinitis: a three-case series and a literature review

2019 ◽  
pp. 76-79
Author(s):  
Paulo Sérgio Faro Santos ◽  
Ana Carolina Andrade
Keyword(s):  
Computed Tomography ◽  
Cervical Spine ◽  
Gold Standard ◽  
Clinical Course ◽  
Case Series ◽  
Clinical Suspicion ◽  
Benign Condition ◽  
Inflammatory Drugs ◽  
Calcification Process ◽  
Retropharyngeal Tendinitis

Acute retropharyngeal tendinitis is a rare, self-limiting, benign condition that is poorly described in the literature. It is clinically characterized by neck pain and stiffness and either dysphagia or odynophagia. Diagnosis depends on clinical suspicion and imaging examination (computed tomography of the cervical spine is the gold standard), with calcification found in the anterior region of the first and second vertebrae. The disease usually presents good clinical course, with satisfactory response to the use of either non-steroidal anti-inflammatory drugs or corticosteroids, with remission of symptoms in days to weeks and of the calcification process in weeks to months.

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.

Multislice imaging of gastrointestinal stromal tumors

2018 ◽  
pp. 3-14
Keyword(s):  
Computed Tomography ◽  
Key Words ◽  
Gold Standard ◽  
Gastrointestinal Stromal Tumors ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Preferential Localization ◽  
Multislice Imaging ◽  
Computed Tomography Diagnosis

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the digestive tract (1%). These tumors express the CD 117 in 95% of cases. The stomach is the preferential localization (70%). Diagnosis is difficult and sometimes late. Progress of imaging has greatly improved the management and the prognosis. Computed tomography (CT) is the gold standard for diagnosis, staging, and treatment follow-up. The increasing recognition of GIST’s histopathology and the prolonged survival revealed some suggestive imaging aspects. Key words: gastro-intestinal stromal tumors; computed tomography; diagnosis

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