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.

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.

Hirschsprung Disease

2018 ◽  
Author(s):  
Erica Sivak ◽  
Marcus Malek ◽  
Denise Hall-Burton
Keyword(s):  
Nervous System ◽  
Pain Control ◽  
Surgical Intervention ◽  
Neonatal Period ◽  
Ganglion Cells ◽  
Surgical Techniques ◽  
Hirschsprung Disease ◽  
Presenting Symptoms ◽  
Neuraxial Analgesia ◽  
Laparoscopic Complications

Hirschsprung disease is characterized by the absence of ganglion cells in the enteric nervous system. Inability to pass meconium in the neonatal period, enterocolitis, bowel obstruction, or chronic constipation in older infants and children may be the presenting symptoms. Once diagnosed, surgical intervention is always required. Successful resection of all portions of aganglionic intestine may be accomplished through multiple surgical techniques. Depending upon the surgical approach required, regional anesthesia may be indicated to assist with pain control postoperatively. This chapter describes Hirschsprung disease and considers a variety of questions related to its diagnosis and treatment, as well as risks related to surgery, including anaphylaxis, laparoscopic complications, vascular injury, epidural complications, and issues related to neuraxial analgesia.

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 Comparative study between use of calretinin and synaptophysin immunostaining in diagnosis of Hirschsprung disease

2019 ◽  
Vol 6 (3) ◽  
pp. 658
Author(s):  
Mahmoud Sheir ◽  
Rehab M. Samaka ◽  
Tamer Fakhry ◽  
Ayman A. Albatanony
Keyword(s):  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Diagnostic Value ◽  
Immunohistochemical Expression ◽  
University Hospitals ◽  
Female Ratio ◽  
Hematoxylin And Eosin ◽  
Rectal Biopsies ◽  
Male To Female

Background: Hirschsprung disease (HD) is diagnosed by absence of ganglion cells in rectal biopsy. In some cases, standard methods fail to diagnose agangliosis. The aim of this study is to assess the diagnostic value of immunohistochemistry (IHC) of calretinin and synaptophysin compared to standard methods.Methods: This prospective cross section study was conducted in Menoufia University hospitals, Egypt spanning the period between October 2017 to December 2018. Rectal biopsies of the clinically suspected HD patients stained with calretinin and synaptophysin and their results compared to the standard hematoxylin and eosin (H&E) stained sections.Results: A total of 30 patients aged from 3 days to 2 years with a male to female ratio 11:4 were examined for rectal biopsies. Sections of 9 cases were diagnosed HD. In inadequate specimens, sensitivity and specificity of calretinin and synpatophysin (100%, 80%) and (100%, 85.71%) respectively were superior to the sensitivity (40%) and specificity (14%) of H&E. However, in adequate specimens, results of H&E, calretinin and synaptophysin were the same.Conclusions: Immunohistochemical expression of calretinin and synaptophysin were conclusive, diagnostic and superior to the results of H&E stained section in inadequate. However, in adequate specimens calretinin and synaptophysin were consistent and confirmatory to the results of H&E sections.

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.

scholarly journals Ultrashort-segment Hirschsprung disease in a 4-year-old female

2020 ◽  
Vol 2020 (9) ◽  
Author(s):  
Alejandra Rodas ◽  
Sabrina Barillas ◽  
Javier Ardebol
Keyword(s):  
Congenital Anomalies ◽  
Pediatric Surgery ◽  
Intestinal Tract ◽  
Neonatal Period ◽  
Clinical Symptoms ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Distal Portion ◽  
Congenital Megacolon ◽  
Aganglionic Segment

Abstract Hirschsprung disease (HSCR) is characterized by the absence of neuronal ganglion cells in a distal portion of the intestinal tract [1]. In 1691, Frederick Ruysch described the disease as congenital megacolon. HSCR-associated congenital anomalies have been reported in 5–32% of affected patients [2]. The clinical symptoms of HSCR are usually evident in the neonatal period. However, in some cases where the extent of the aganglionic segment is short, symptoms may become clinically relevant later in childhood [3]. HSCR is one of the most difficult diseases to identify in pediatric surgery due to its multiple clinical, histological and radiological variations [2, 3]. The goal of surgical management is to remove the aganglionic segment and reconstruct the intestinal tract through techniques such as Swenson, Duhamel and Soave [4]. The following case consists of a 4-year-old patient with a chronic presentation of constipation secondary to ultrashort-segment Hirschsprung disease.

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.

scholarly journals Hirschsprung's disease: case report

2020 ◽  
Author(s):  
Pedro Nogarotto Cembraneli ◽  
Renata Brasileiro de Faria Cavalcante
Keyword(s):  
Case Report ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Neonatal Period ◽  
Ganglion Cells ◽  
Clinical Manifestations ◽  
Rectal Biopsy ◽  
Congenital Megacolon ◽  
X Ray ◽  
Disease Case

Introduction: Hirschsprung's Disease (DH), also known as Congenital Megacolon, has been described as a congenital disorder in Newborns (NB) with severe constipation associated with dilatation and hypertrophy of the colon. To elucidate the diagnosis, it is necessary to perform complementary tests, but the gold standard is rectal biopsy. The treatment is always surgical, aiming at the removal of the aganglionic part and the restoration of the continuity of the intestine. Thus, we chose to report a case of a 1-year and 10-monthold patient with chronic constipation from birth, who was diagnosed with DH, requiring surgical intervention. Case report: A 29 days of life male patient comes with a complaint that he has been evacuating in small quantities since birth, with feces that look yellowish, pasty and with a characteristic odor, intercalating with periods of constipation. Mother reports that the RN remained for up to a week without evacuating from birth. With the DH hypothesis, an x-ray of the abdomen, an opaque enema, and a rectal biopsy were performed confirming the hypothesis. We opted for surgical treatment where initially a colostomy was performed on a loop and then a rectosigmoidectomy with colon retraction. Discussion: HD is a congenital anomaly that affects 1 in 5,000 live births. It is characterized by the absence of ganglion cells, and 80 to 90% of the cases are diagnosed in the neonatal period. The delay between the onset of clinical manifestations and the investigation of the disease increases the risk of complications, with more frequent enterocolitis, in addition to increasing the morbimortality of the congenital megacolon. Conclusion: With the present study, we aimed to emphasize the need to alert the pediatrician to a better understanding of the clinical picture of HD, as well as its complications and the importance of performing the diagnosis early

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