Dysmorphic Neurofilament-Positive Ganglion Cells in the Myenteric Plexus at the Proximal Resection Margin Indicate Worse Postoperative Prognosis in Hirschsprung’s Disease

2019 ◽  
Vol 23 (3) ◽  
pp. 222-229
Author(s):  
Jin Zhu ◽  
Ying Zhang ◽  
Yi Wang ◽  
Shanshan Yu ◽  
Yanling Chen ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Resection Margin ◽  
Ganglion Cells ◽  
Distal Colon ◽  
Postoperative Recovery ◽  
Surgical Removal ◽  
Colon Tissue ◽  
Eosinophilic Cytoplasm ◽  
Proximal Resection Margin

Background Hirschsprung’s disease (HD) is a congenital disorder affecting neonates that presents with distal intestinal obstruction. It is the most common type of anorectal malformation. Treatment of HD consists of surgical removal of the distal colon including the most distal aganglionic segment, the transitional zone, and a prudent length of proximal colon that is determined during the surgical procedure to be normally ganglionated by intraoperative demonstration of normal ganglion cells up to and including the surgical resection margin. Methods In a retrospective study of formalin-fixed paraffin-embedded colon tissue from the proximal resection margin (PRM) of 209 HD patients, we made morphometric measures and detected immature ganglion cells defined as dysmorphic by immunohistochemical demonstration of cytoplasmic neurofilament (NF). Results The majority of NF-positive ganglion cells in HD patients appeared immature, with less cytoplasm. Occasional positive ganglion cells in the same patients appeared mature with abundant eosinophilic cytoplasm, Nissl bodies, prominent nucleoli, and adjacent glial cells. Patients with NF-positive ganglion cells in the myenteric plexuses at the PRM may have poor postoperative recovery. Conclusion We propose that NF expression in dysmorphic ganglion cells at the PRM may predict poor outcome after pull-through surgery for HD.

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.

scholarly journals Probable Action Dimensions of Madhutailika Yapana Vasti in Hirschsprung's Disease

2021 ◽  
pp. 91-94
Author(s):  
Sruthi Radhakrishnan ◽  
Ambili Krishna ◽  
T K Sujan
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Current Knowledge ◽  
Modern Science ◽  
Surgical Removal ◽  
Research Gaps ◽  
Operative Complications ◽  
Over Time

Hirschsprung’s disease (HD) is a congenital disorder defined by the absence of ganglion cells in terminal rectum which is responsible for non specific symptomatology including chronic constipation which is usually not relieved with oral laxatives. In modern science, the treatment option is surgical removal of affected area followed by anastomosis but more post operative complications and lower quality of life are the major concerns while adopting surgical procedures. Hence the scope of Ayurvedic modalities in HD is to be explored. When we consider the pathology as Udavartha due to deranged Pakwasayagatha Vatha, the prime importance of Vasti can be analyzed. It is the Prakupitha Apana Vayu which leads to Udavartha. Children suffer from chronic accumulation of Mala due to Pratiloma Gati of Vayu which over time becomes hard and dried and may further result in infection. Hence the line of disease management requires Sodhana for the elimination of chronic stasis of Mala with simultaneous Brimhana and Rasayana action for gut brain nourishment and regeneration. Madhutailika Yapana Vasti which is mentioned in Ashtangahrudaya Kalpasidhi Sthana serves these purposes simultaneously. The present work aims at exploring the current knowledge on probable mode of action of Madutailika Yapana Vasti in Hirschsprung’s disease and to highlight the research gaps that we must overcome to further elucidate the vast action dimensions of Yapana Vasti in the same disease.

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

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.

Acquired Aganglionic Megacolon in a Premature Infant: Report of a Case

PEDIATRICS ◽  
1975 ◽  
Vol 56 (3) ◽  
pp. 459-462
Author(s):  
Robert J. Touloukian ◽  
Raymond Duncan
Keyword(s):  
Case Report ◽  
Environmental Factors ◽  
Premature Infant ◽  
Ganglion Cell ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Genetic Factors ◽  
Male Infant ◽  
Distal Colon ◽  
Premature Newborn

Hirschsprung's disease is presumably caused by intrauterine environmental or genetic factors which prevent the migration and formation of the intramural ganglion cell (IMG) in the distal colon. While the IMG is known to be particularly sensitive to anoxemia and other postnatal environmental factors, its selective loss following such stress has not been substantiated in an unoperated patient. The following report of a stressed premature newborn with the clinical and radiographic features of Hirschsprung's disease clearly documents the histologic disappearance of the IMG from the distal colon. CASE REPORT D.J. (#88-65-29), a 1,525-gm male infant, was born to a healthy 22-year-old abortus 0, gravida 1, para 0 mother following an uncomplicated 30-week gestation, ending in a spontaneous uncomplicated delivery.

Tuft Cells: A New Player in Hirschsprung's Disease

2019 ◽  
Vol 30 (01) ◽  
pp. 059-063 ◽  
Author(s):  
Anne Marie O'Donnell ◽  
Hiroki Nakamura ◽  
Prem Puri
Keyword(s):  
Gene Expression ◽  
Confocal Microscopy ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Distal Colon ◽  
Pcr Analysis ◽  
Specific Marker ◽  
Qrt Pcr ◽  
Tuft Cell ◽  
Tuft Cells

Abstract Introduction “Tuft” cells, also known as brush or caveolated cells, are characteristically fusiform shaped, with a distinct apical “tuft” of microvilli extending into the lumen. Double cortin-like kinase 1 (DCLK1) is a microtubule kinase and is a specific marker of intestinal tuft cells. DCLK1-positive tuft cells have been shown to play a key role in gastrointestinal chemosensation, inflammation, and neurotransmission. DCLK1 and Choline acetyltransferase (ChAT), the enzymes responsible for acetylcholine production, are reported to be coexpressed within the gastrointestinal tract. We designed this study to investigate the hypothesis that DCLK1 gene expression is altered in Hirschsprung's disease (HSCR). Materials and Methods HSCR tissue specimens (n = 6) were collected at the time of pull-through surgery, while control samples were obtained at the time of colostomy closure in patients with imperforate anus (n = 6). Quantitative real-time polymerase chain reaction (qRT-PCR) analysis was undertaken to quantify DCLK1 gene expression, and immunolabeling of DCLK1-positive tuft cells was visualized using confocal microscopy. Results qRT-PCR analysis revealed significant downregulation of the DCLK1 gene in both aganglionic and ganglionic HSCR specimens compared with controls (p < 0.05). Confocal microscopy revealed DCLK1-positive tuft cell expression within the colonic mucosa, with a reduction in expression in both aganglionic and ganglionic HSCR colon compared with controls. Conclusion DCLK1 is significantly downregulated in HSCR colon, suggesting a role for tuft cells in cholinergic neurotransmission of the distal colon. The marked decrease in DCLK1 expression within ganglionic specimens highlights the physiologically abnormal nature of this segment in HSCR patients.

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....

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