scholarly journals Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum

2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Shun Watanabe ◽  
Shotaro Matsudera ◽  
Takeshi Yamaguchi ◽  
Yukiko Tani ◽  
Kei Ogino ◽  
...  
Keyword(s):  
Sigmoid Colon ◽  
Ganglion Cells ◽  
Circular Muscle ◽  
Hirschsprung Disease ◽  
Waardenburg Syndrome ◽  
Myenteric Ganglion ◽  
Distal Side ◽  
Embryonic Life ◽  
Colon And Rectum ◽  
Functional Intestinal Obstruction

Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer from functional intestinal obstruction. When it is Hirschsprung disease (HD), the WS is diagnosed as type 4 WS. We report a case of WS which did not have myenteric ganglion cells in the sigmoid colon and rectum. Whether to diagnosis this case as type 1 or 4 WS is controversial. Moreover, this is the third report which has peristalsis failure caused by abnormal myenteric plexus. In all three cases, the eosinophils had aggregated in the myenteric layer of the transition zone. During embryonic life, enteric ganglion cells migrate to the myenteric layer from the proximal to the distal side sequentially and, subsequently, to the submucosal layer through the circular muscle. Therefore, we hypothesize that myenteric ganglion cells that had already migrated were eliminated by an eosinophil-mediated mechanism in these three cases. We believe this report may be helpful to elucidate the pathogenesis of some types of HD.

Pathohistological study of the ganglion plexuses of the sigmoid colon in patients with chronic slow-transit constipation

2021 ◽  
Vol 23 (3) ◽  
pp. 117-124
Author(s):  
Evgenii I. Chumasov ◽  
Pavel N. Romashchenko ◽  
Nicolay A. Maistrenko ◽  
Vadim B. Samedov ◽  
Elena S. Petrova ◽  
...  
Keyword(s):  
Sigmoid Colon ◽  
Ganglion Cells ◽  
Circular Muscle ◽  
Human Colon ◽  
Muscle Layer ◽  
Blue Staining ◽  
Slow Transit Constipation ◽  
Pathological Changes ◽  
Slow Transit ◽  
Transit Constipation

The morphological study of the resected sections of the colon obtained at the S.P. Fedorov Department of Faculty Surgery of S.M. Kirov Military Medical Academy, as a result of surgical treatment of patients with severe chronic slow-transit constipation, included an assessment of the changes in the structures of ganglion plexuses. Three cases were considered (women, aged 3740 years). Various degrees of pathological changes were detected in the ganglion plexuses (Auerbach and Meissner) of the sigmoid colon from patients with chronic slow-transit constipation using Nissls toluidine blue staining. In all cases, reactive, dystrophic, severe degenerative-necrotic changes of ganglion cells, as well as the details of their death, were described in detail. Along with pathological changes in nerve cells in the myenteric nerve plexus and gliosis, features of neuronglial relationships were described, and the death of ganglion cells in the human colon with the active participation of specialized astrocyte-like glial cells was also established for the first time. In the third case, a pattern of pronounced dysplasia and dysgangliogenesis was revealed in the myenteric ganglion plexus of the sigmoid colon, and the presence of diffuse lymphmonocytic infiltrates was noted in the circular muscle layer. Pathological changes in the enteral nervous system in chronic slow-transit constipation reflect neuropathy, which can serve as the main cause of impaired intestinal functions and of some symptoms.

scholarly journals GAMBARAN PASIEN HIRSCHSPRUNG DI RSUP PROF. DR. R. D. KANDOU MANADO PERIODE JANUARI 2010 – SEPTEMBER 2014

e-CliniC ◽  
2015 ◽  
Vol 3 (1) ◽  
Author(s):  
Elfianto D. Corputty ◽  
Harsali F. Lampus ◽  
Alwin Monoarfa
Keyword(s):  
Barium Enema ◽  
Ganglion Cells ◽  
Hirschsprung Disease ◽  
Abdominal Distension ◽  
Distal Intestine ◽  
Radiologic Evaluation ◽  
Functional Intestinal Obstruction ◽  
Duhamel Procedure ◽  
Intrinsic Component ◽  
Disease Present

Abstract: Hirschsprung disease is a developmental disorder of the intrinsic component of the enteric nervous system that is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the distal intestine. Because these cells are responsible for normal peristalsis, patients with Hirschsprung disease present with functional intestinal obstruction at the level of aganglionosis. This researched purpose to know the description of Hirschsprung ddisease patient in RSUP Prof. Dr. R. D. Kandou Manado for period January 2010 to September 2014. The research method used was a descriptive retrospective. This study found 45 cases of Hirschsprung Disease. Males are more than females with ratio 1,3:1 with the age group are from 2 day to 45 years old. Most Hirscshprung disease patients came with the main complaints: abdominal distension, difficult to defecate and not defecation from birth, with the concomitant complaints, that is vomiting and abdominal pain. The most supporting examination of Hirscshprung disease is radiologic evaluation, that is plain abdominal x-ray and barium enema, and patologi anatomi evaluation, that is mucosal biopsy and suction biopsy. The most used surgery technique of Hirscsprung disease patients is colostomy and duhamel procedure. The most frequent complication of Hirschsprung disease is sepsis. The most outcome is improved clinical condition.Keywords: Hirschsprung disease, description of patientAbstrak: Penyakit Hirschsprung merupakan kelainan perkembangan komponen intrinsik pada sistem saraf enterik yang ditandai oleh absennya sel-sel ganglion pada pleksus myenterik dan submukosa di intestinal distal. Karena sel-sel ini bertanggung jawab untuk peristaltik normal, pasien-pasien penyakit Hirschprung akan mengalami obstruksi intestinal fungsional pada level aganglion. Tujuan Penelitian ini untuk mengetahui gambaran pasien Hirschsprung di RSUP Prof. Dr. R. D. Kandou Manado periode Januari 2010 sampai September 2014. Metode penelitian ini bersifat deskriptif retrospektif. Pada penelitian ini ditemukan 45 kasus penyakit Hirschsprung. Laki-laki lebih banyak dari perempuan dengan rasio 1,3:1 dengan umur mulai dari 2 hari sampai 45 tahun. Secara umum, pasien Hirschsprung datang dengan keluhan utama yaitu perut kembung, tidak BAB sejak lahir dan sulit BAB, disertai keluhan penyerta yaitu muntah atau nyeri perut. Secara umum pemeriksaan penunjang yang digunakan adalah pemeriksaan radiologi yaitu foto polos abdomen dan barium enema, dan pemeriksaan patologi anatomi yaitu biopsi eksisi dan biopsi hisap. Sebagian besar pasien Hirschsprung dilakukan tindakan bedah kolostomi dan duhamel. Komplikasi pada umumnya adalah sepsis. Hasil akhir penatalaksanaan pada umumnya cukup baikKata kunci: penyakit hirschsprung, gambaran pasien

An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

2020 ◽  
pp. 1-5
Author(s):  
Anton Stift ◽  
Kerstin Wimmer ◽  
Felix Harpain ◽  
Katharina Wöran ◽  
Thomas Mang ◽  
...  
Keyword(s):  
Case Report ◽  
Sigmoid Colon ◽  
Immunohistochemical Staining ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Endoscopic Examination ◽  
Case Presentation ◽  
Idiopathic Megacolon ◽  
History Of ◽  
Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

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.

scholarly journals An unusual case of colon vascularization by the inferior mesenteric artery

2017 ◽  
Vol 16 (1) ◽  
pp. 52-55 ◽  
Author(s):  
Serghei Covanțev ◽  
Natalia Mazuruc ◽  
Olga Belic
Keyword(s):  
Small Intestine ◽  
Superior Mesenteric Artery ◽  
Sigmoid Colon ◽  
Rare Variant ◽  
Mesenteric Artery ◽  
Inferior Mesenteric Artery ◽  
Unusual Case ◽  
Human Anatomy ◽  
Colon And Rectum ◽  
University Department

Abstract In this article we present a rare variant in which the large intestine was vascularized by the inferior mesenteric artery. It was encountered during macro and microscopic dissection of the cadaver of a 63-year-old woman at a university department of human anatomy. In this case, the ascending, transverse, descending, and sigmoid colon and rectum were vascularized by the inferior mesenteric artery, whereas the small intestine, cecum and appendix were supplied by the superior mesenteric artery.

scholarly journals Transmural penetration of sigmoid colon and rectum by retained surgical sponge after hysterectomy

2016 ◽  
Vol 22 (10) ◽  
pp. 3052 ◽  
Author(s):  
Woo Young Shin ◽  
Chan Hyuk Im ◽  
Sun Keun Choi ◽  
Yun-Mee Choe ◽  
Kyung Rae Kim
Keyword(s):  
Sigmoid Colon ◽  
Surgical Sponge ◽  
Retained Surgical Sponge ◽  
Colon And Rectum

ENDOMETRIOSIS OF THE SIGMOID COLON AND RECTUM

1978 ◽  
Vol 48 (6) ◽  
pp. 639-643 ◽  
Author(s):  
TONY EYERS ◽  
BRIAN MORGAN ◽  
LEON BIGNOLD
Keyword(s):  
Sigmoid Colon ◽  
Colon And Rectum

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.

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