Hirschsprung's Disease (Anganglionic megacolon)

PEDIATRICS ◽  
1959 ◽  
Vol 24 (1) ◽  
pp. 39-39
Keyword(s):  
Surgical Technique ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Rectal Mucosa ◽  
Diagnostic Value ◽  
Radiologic Diagnosis ◽  
Comprehensive Review ◽  
Diagnosis And Management ◽  
Original Technique

This is a concise and comprehensive review of the essentials in the diagnosis and management of megacolon. The author pioneered in the development of a surgical technique for the treatment of megacolon. The experience with this technique has now become extensive and it has been remarkably successful. Comment on modifications of the original technique which have been proposed indicates that none of the modifications are superior and some are inferior. Particular attention is given to the diagnostic value of biopsy of the rectal mucosa and search for the characteristic abnormality, namely, failure of development of ganglion cells. Pitfalls in the radiologic diagnosis and pecularities of the disease in the newborn are discussed. This article contains many practical points regarding the diagnosis and management of megacolon.

Diagnostic Accuracy of Combined Acetylcholinesterase Histochemistry and Calretinin Immunohistochemistry of Rectal Biopsy Specimens in Hirschsprung’s Disease

2018 ◽  
Vol 26 (6) ◽  
pp. 507-513 ◽  
Author(s):  
Hasong Jeong ◽  
Hye Ra Jung ◽  
Ilseon Hwang ◽  
Sun Young Kwon ◽  
Misun Choe ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Rectal Biopsy ◽  
Diagnostic Value ◽  
Rectal Suction Biopsy ◽  
Biopsy Specimens ◽  
Suction Biopsy ◽  
Acetylcholinesterase Histochemistry ◽  
Hematoxylin Eosin

Background. Acetylcholinesterase (AchE) histochemistry has been established as an accurate diagnostic tool for Hirschsprung’s disease (HD). In addition, calretinin immunohistochemistry is also reported as a reliable and adjunctive method to diagnose HD. We investigated the diagnostic value of combined AchE histochemistry and calretinin immunohistochemistry in rectal suction biopsies from HD and non-HD patients. Methods. We retrospectively reviewed 99 rectal suction biopsy specimens including 4 repeat biopsies from 95 patients (34 HD and 61 non-HD). Each specimen was evaluated with hematoxylin-eosin, AchE histochemistry, and calretinin immunohistochemistry. Results. Of 95 patients, only 21 (22.1%) showed some ganglion cells. All 61 non-HD cases revealed no abnormal AchE-positive fibers. Of 34 HD patients, 32 exhibited abnormal AchE fibers, but 2 showed no stained fibers. None of the tissues from the HD patients exhibited calretinin immunoreactivity. Test sensitivity and specificity of AchE histochemistry alone were 93.5% and 100.0%, respectively, while calretinin immunohistochemistry were 100.0% and 85.2%, respectively. Conclusions. AchE histochemistry is a good diagnostic method for HD, if feasible, and a combination of AchE histochemistry and calretinin immunohistochemistry will help increase the accuracy of the diagnosis of HD.

Calretinin Expression in Hirschsprung’s Disease – A Potential Marker of Ganglion Cells

2017 ◽  
Vol 11 (3) ◽  
pp. 181-186
Author(s):  
Mishal Sikandar ◽  
Abdul Hannan Nagi ◽  
Komal Sikandar ◽  
Nadia Naseem ◽  
Ihtisham Qureshi
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Potential Marker

scholarly journals Pullthrough Operation for Hirschsprung's Disease: Importance of a Circumferential (Donut) Biopsy at the Level of the Anastomosis

2019 ◽  
Vol 07 (01) ◽  
pp. e55-e57
Author(s):  
Susan Jehangir ◽  
Soundappan Venkatraman Sannappa Soundappan ◽  
Micheal Krivanek ◽  
Susan Arbuckle ◽  
Nicole Graf
Keyword(s):  
Transition Zone ◽  
Transverse Colon ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Distal Colon ◽  
Dentate Line ◽  
Full Thickness ◽  
Mesenteric Border ◽  
Antimesenteric Border

AbstractHirschsprung's disease is characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. It is managed by excision of the aganglionic segment and anastomosis of the ganglionated bowel just above the dentate line. The level of aganglionosis is determined by performing multiple seromuscular biopsies and/or full thickness biopsy on the antimesenteric border of the bowel to determine the level of pullthrough. The transition zone is described as being irregular, and hence a doughnut biopsy is recommended so that the complete circumference can be assessed. Herein, we described a child in whom there was a selective absence of ganglion cells in 30% of the circumference of the bowel along the mesenteric border for most of the transverse colon. This case defies the known concept of neural migration in an intramural and transmesenteric fashion and emphasizes the importance of a doughnut biopsy of the pulled-down segment.

Hirschsprung’s Disease: Two Cases of Total Intestinal Aganglionosis

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S73-S73
Author(s):  
V Ramachandran ◽  
J Nguyen ◽  
C Caruso ◽  
D Rao
Keyword(s):  
Small Bowel ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Ileocecal Valve ◽  
Male Infant ◽  
Congenital Central Hypoventilation Syndrome ◽  
Renal Anomalies ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Abstract Introduction/Objective Hirschsprung’s disease is a disorder associated with an absence of ganglion cells in a segment of the bowel. Total colonic and small bowel aganglionosis occurs in less than 1% of all Hirschsprung’s disease patients. Even rarer is the finding of Haddad syndrome, the coexistence of congenital central hypoventilation syndrome and Hirschsprung’s disease. Congenital central hypoventilation syndrome has approximately 1,000 reported cases, with colonic aganglionosis being associated with 15-20% of those cases. The prevalence of Hirschsprung’s disease with congenital renal anomalies may be another underreported finding. Methods Here, we report two rare cases of Hirschsprung’s disease with significant extension in the small bowel. One case involves a 38-week gestational age male infant admitted for apnea and another case involves 39-week gestational age female infant admitted for vomiting. Results Both infants had rectal suction biopsies confirming the absence of ganglion cells. The male infant had mapping biopsies which histologically showed hypertrophic nerve fibers and an absence of ganglion cells in the colon extending up to 70 cm proximal to the ileocecal valve. Calretinin immunostaining confirmed aganglionsis. Genetic testing showed a PHOX2B gene mutation carrying 32 polyalanine repeat mutations, confirming a diagnosis of congenital central hypoventilation syndrome coexisting with Hirschsprung’s disease. The female infant had intraoperative frozen sections that identified ganglion cells throughout the colon. On permanent sections, there was an absence of ganglion cells in the upper rectum extending up to 65 cm proximal to the ileocecal valve. She also was noted to have agenesis of the left kidney and a urachal remnant. Genetic testing was negative for RET mutations. Conclusion Overall, these cases provide further information on a rare variant of Hirschsprung’s disease that includes significant portions of the small bowel. Additionally, this study adds to the documented reports of Haddad syndrome and the connections between renal anomalies with Hirschsprung’s disease. Last, this series alludes to the difficulties of frozen section diagnosis of this disease.

scholarly journals A Case Report on 2 years Child: Hirschprung’s Disease

2021 ◽  
pp. 558-564
Author(s):  
Anushri Kale ◽  
Aditi Badwaik ◽  
Pallavi Dhulse ◽  
Archana Maurya ◽  
Bibin Kurian
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Past History ◽  
Rectal Biopsy ◽  
Case Presentation ◽  
Surgical History ◽  
History Of ◽  
Pull Through ◽  
Hirschprung's Disease

Introduction: Hirschsprung's disease is the most common cause of large intestinal obstructing in neonates. Hirschsprung's disease is a congenital anomaly caused by migratory failure of neural crest cells leading to abnormal innervations of the bowel .The defect begins in the internal and sphincter and extends proximally for a variable length of gut. Hirschprung's disease is a disorder of the gut caused due to congenital absence of ganglion cells in the sub-mucosal and myenteric plexus of intestine. This disease is also known as megacolon or congenital Aganglionic megacolon. Case presentation: A 2 years old male child, known case of Hirschprung’s disease, was brought to AVBRH for further management. As narrated by the mother, the child was not passing stool since birth. There was no history of abdominal distention, vomiting or fever. The child pass the stool with the help of enema which was given to the child in the morning and evening. Mast. Devansh has past history of NICU stay. In View of not passing stools, USG of abdomen and pelvis done. Endorectal pull through surgery was done on 4/02/2021 under general anesthesia. No any past surgical history. There is a past history of rectal biopsy done in 1 1/2 month of age. Conclusion:The patient was admitted in AVBRH for further management. Then the report mainly focused on surgical management and quality nursing care due to which patient was discharged without any further complication and satisfaction.

scholarly journals HIRSCHSPRUNG’S DISEASE: A LITERATURE REVIEW

2019 ◽  
Vol 3 (6) ◽  
pp. 14-25
Author(s):  
Camyla Lemos Budib ◽  
Jean Carlos Fontana ◽  
Hígor Guimarães Gomes ◽  
Rubens Moura Campos Zeron ◽  
Victor Campos de Albuquerque ◽  
...  
Keyword(s):  
Literature Review ◽  
Congenital Malformation ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Motor Coordination ◽  
Ganglion Cells ◽  
Distal Intestine ◽  
Keywords Hirschsprung's Disease ◽  
Fecal Content

Abstract: The Hirschsprung's disease (HSCR) is a congenital malformation, which creates a defect in the ganglion cells migration to the distal intestine. This situation will cause a problem in the motor coordination generating a functional obstruction and retention of fecal content. The diagnosis of this disease is histological, and the treatment is the surgery.   Keywords: Hirschsprung's disease, congenital, obstruction.

Hirschsprung's disease

2011 ◽  
Author(s):  
R. Mark Beattie ◽  
Anil Dhawan ◽  
John W.L. Puntis
Keyword(s):  
Myenteric Plexus ◽  
High Frequency ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Congenital Abnormalities ◽  
Ganglion Cells ◽  
Chromosome 10 ◽  
Neuronal Intestinal Dysplasia ◽  
Intestinal Pseudo Obstruction ◽  
Hirschprung's Disease

Hirschprung's disease 280Neuronal intestinal dysplasia 281Intestinal pseudo-obstruction 281Hirschsprung's disease is the absence of ganglion cells in the myenteric plexus of the most distal bowel. Presentation is with constipation. Incidence is 1 in 5000. Long-segment Hirschsprung's disease is familial, with equal sex incidence. The gene is on chromosome 10. It is associated with Down's syndrome and there is a high frequency of other congenital abnormalities....

scholarly journals Clinicopathological Characteristics of Hirschsprung’s Disease With Emphasis on Diagnosis and Management: A Single-Center Study in the Kingdom of Saudi Arabia

2019 ◽  
Vol 6 ◽  
pp. 2333794X1984886
Author(s):  
Abdulaziz Howsawi ◽  
Hanaa Bamefleh ◽  
Saud Al Jadaan ◽  
Stanley Crankson ◽  
Rakan Alkhilaiwi ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Neonatal Period ◽  
Ganglion Cells ◽  
Care Center ◽  
Tertiary Care ◽  
Motor Disorder ◽  
Permanent Section ◽  
Pull Through

Introduction: Hirschsprung’s Disease (HD) is a motor disorder of the gut caused by the failure of neural crest cells to migrate craniocaudally into the bowel during intestinal development, resulting in a functional obstruction. The majority of patients with HD are diagnosed in the neonatal period when they present with symptoms of distal intestinal obstruction. Aim: This study aims to identify the clinic-pathological characteristic of HD patients in our institution in KSA and comparing it with local and international data. Materials and Methods: This retrospective cohort study was conducted in King Abdulaziz Medical City (KAMC), a tertiary care center in Riyadh, Kingdome of Saudi Arabia (KSA). Results: A total of 54 patients (72% male) were diagnosed with HD. Forty-eight patients (89%) were born at term, and 6 were pre-term. Sixty-three percent of the patients presented in the neonatal period. Twenty-two patients (41%) underwent one-stage endorectal pull-through procedure, 23 patients (43%) two-stage endorectal pull-through, and 9 patients (16%) had three-stage endorectal pull-through. Five out of 54 patients had ganglion cells seen on FS but were absent in the permanent section. Therefore, the concordance rate was 90.8%. Conclusion: FS biopsy is a necessary method to determine the level of aganglionosis intraoperatively in HD, but the definitive diagnosis should be with permanent section. Also, the choice of surgical operation type (single-stage or multi-stage pull-through) depends on the patient’s clinical condition.

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