scholarly journals Hirschsprung’s Disease in a Twin Neonate With One Suffering From Multiple Skip Segments

2021 ◽  
Author(s):  
Razieh Sangsari ◽  
Maliheh Kadivar ◽  
Maryam Saeedi ◽  
Kayvan Mirnia ◽  
Maryam Ghavami Adel ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Ileocecal Valve ◽  
Transitional Zone ◽  
Ascending Colon ◽  
Colostomy Site ◽  
Descending Colon ◽  
Vessel Tortuosity ◽  
Different Parts

This is a new case, affecting a twin that both with Hirschsprung’s disease, one was suffering from long-segment Hirschsprung’s disease with skip segmented. Our surgeon suspected the absence of abnormal vessel tortuosity in the transitional zone; thus, the appendix was sent for permanent pathology. There were ganglion cells in the colostomy site but no ganglion was found in the appendix. Complete biopsies from different parts of the intestine demonstrated positive ganglion cells in the transverse colon, ascending colon, and the distal ileum, jejunum, and duodenum, and negative ganglion cells in the rectum, sigmoid, descending colon, appendix, and 5 cm far from the ileocecal valve were observed. Therefore, the Kimura procedure was done. The most important key in such cases is the surgeons’ observation during operation.

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.

Calretinin versus Hematoxylin and Eosin Stain for Diagnosis of Hirschsprung’s Disease; Comparison in Ganglionic, Transitional, and Aganglionic Zones

2020 ◽  
Vol 103 (6) ◽  
pp. 559-565
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Transitional Zone ◽  
Diagnostic Study ◽  
Double Blind ◽  
Muscular Layer ◽  
Rectal Suction Biopsy ◽  
Suction Biopsy ◽  
Hematoxylin And Eosin

Objective: To compare the results of calretinin stain with hematoxylin and eosin (H&E) stain for diagnosis of Hirschsprung’s disease. Materials and Methods: A prospective double-blind diagnostic study was done. Hirschsprung’s patients who underwent transanal endorectal pull through (TERPT) surgery between February 2015 and February 2017 were included. The pulled-through specimens were sampled at the ganglionic, transitional, and aganglionic zones. Each specimen was stained with calretinin and H&E. Agreement and kappa analysis were done. Results: Fifty-one Hirschsprung’s patients (153 specimens) were included for analysis. There were 37 males (72.5%) and 14 females (27.5%) with a median age at surgery of four months. Thirty-one specimens showed a negative stain for calretinin (aganglionic bowel) and 33 specimens showed no ganglion cells in the H&E stain. One hundred twenty-two specimens in calretinin stain were consistently positive with ganglionic bowel and 120 specimens in the H&E stain showed ganglion cells. Agreement and Cohen’s kappa coefficient were 97.4% and 0.921 (95% confidence interval 0.845 to 0.997), respectively. Disconcordance was found in four specimens. Three out of four were in the transitional zone. One was in the aganglionic zone, which has no muscular layer attached. (Thirty-six specimens had no muscular layer.) Conclusion: Calretinin stain was found to be comparable with the H&E stain and could be used for diagnosis of Hirschsprung’s disease. In rectal suction biopsy specimen in which the muscular layer was not included, both calretinin and H&E can be used. Keywords: Megacolon, Hematoxylin and eosin (H&E), Calretinin, Rectal suction biopsy (RSB), Full thickness biopsy

scholarly journals COLON ATRESIA IN COMBINATION WITH HIRSCHSPRUNG’S DISEASE: A RARE CLINICAL CASE

2019 ◽  
Vol 25 (4) ◽  
pp. 75-80
Author(s):  
S. A. Karavaeva ◽  
A. V. Kagan ◽  
A. N. Kotin ◽  
T. V. Kesaeva
Keyword(s):  
Intestinal Obstruction ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Chromosomal Abnormalities ◽  
Ganglion Cells ◽  
Histological Study ◽  
Ileocecal Valve ◽  
Contrast Enema ◽  
Surgical Department ◽  
Colonic Atresia

Introduction. Hirschsprung’s disease is a congenital anomaly characterized by the absence of ganglion cells in submucosal and intramuscular layers of intestinal wall that leads to the intestinal obstruction. 70–80 % of cases are isolated malformation but it can be combined with chromosomal abnormalities and other malformations. Coexistence of Hirschsprung’s disease with intestinal atresia is extremely rare. It can cause significant difficulties in diagnostics and treatment.Material and methods.Patient A, a boy, was transferred to the surgical department at the age of two days with a history of intestinal obstruction. He had abdominal X-ray studies: intestinal obstruction. The contrast enema showed microcolon that was coiled in the pelvis. Patient was prepared to the surgical treatment. Intraoperatively colonic atresia was identified at 10 sm from the ileocecal valve. A double colostomy was performed to the child and biopsy on the level of mucous fistula was taken. Histological study showed the aganglionosis of the distal colon. At the age of 4 months, the patient underwent Soave-Swenson endorectal pullthrough procedure with intraoperative extended express-biopsy that confirmed the absence of ganglion cells in whole distal bowel. The aganglionic part was resected, the ileocecal valve with the part of the colon of 10 cm long was mobilized and the endorectal bringing the colon down to the perineum was performed by Soave – Swenson. Postoperative recovery was uneventful.Results.A high index of suspicion is required to promptly diagnose Hirschsprung’s disease in a child with colonic atresia despite the rare combination of these two anomalies. In this case the histological study allowed to recognize association of colonic atresia with Hirschsprung’s disease and helped to avoid complications after further surgery.Conclusions. Early detection of coexisting of these two anomalies helps to prevent the development of serious postoperative complications. 

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.

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 DIAGNOSTIC ACCURACY OF BARIUM ENEMA FINDINGS IN HIRSCHSPRUNG'S DISEASE

2016 ◽  
Vol 29 (3) ◽  
pp. 155-158 ◽  
Author(s):  
Mehran PEYVASTEH ◽  
Shahnam ASKARPOUR ◽  
Nasrollah OSTADIAN ◽  
Mohammad-Reza MOGHIMI ◽  
Hazhir JAVAHERIZADEH
Keyword(s):  
Barium Enema ◽  
Predictive Value ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Transitional Zone ◽  
Dentate Line ◽  
Contrast Enema ◽  
Cross Sectional ◽  
Specificity And Sensitivity ◽  
Sensitivity Specificity

ABSTRACT Background: Hirschsprung's disease is the most common cause of pediatric intestinal obstruction. Contrast enema is used for evaluation of the patients with its diagnosis. Aim: To evaluate sensitivity, specificity, positive predictive value, and negative predictive value of radiologic findings for diagnosis of Hirschsprung in patients underwent barium enema. Methods: This cross sectional study was carried out in Imam Khomeini Hospital for one year starting from 2012, April. Sixty patients were enrolled. Inclusion criteria were: neonates with failure to pass meconium, abdominal distention, and refractory constipation who failed to respond with medical treatment. Transitional zone, delay in barium evacuation after 24 h, rectosigmoid index (maximum with of the rectum divided by maximum with of the sigmoid; abnormal if <1), and irregularity of mucosa (jejunization) were evaluated in barium enema. Biopsy was obtained at three locations apart above dentate line. PPV, NPV, specificity , and sensitivity was calculated for each finding. Results: Mean age of the cases with Hirschsprung's disease and without was 17.90±18.29 months and 17.8±18.34 months respectively (p=0.983). It was confirmed in 30 (M=20, F=10) of cases. Failure to pass meconium was found in 21(70%) cases. Sensitivity, specificity, PPV, and NPV were 90%, 80%, 81.8% and 88.8% respectively for transitional zone in barium enema. Sensitivity, specificity, PPV, and NPV were 76.7%, 83.3%, 78.1% and 82.1% respectively for rectosigmoid index .Sensitivity, specificity, PPV, and NPV were 46.7%, 100%, 100% and 65.2% respectively for irregular contraction detected in barium enema. Sensitivity, specificity, PPV, and NPV were 23.3%, 100%, 100% and 56.6% respectively for mucosal irregularity in barium enema. Conclusion: The most sensitive finding was transitional zone. The most specific findings were irregular contraction, mucosal irregularity, and followed by cobblestone appearance.

scholarly journals Barium Enema in Hirschsprung’s Disease : Correlation of Clinical Outcome

2018 ◽  
Vol 29 (Number 2) ◽  
pp. 24-28
Author(s):  
K Laila ◽  
T K Chowdhury ◽  
S A Talukder ◽  
T Banu
Keyword(s):  
Sigmoid Colon ◽  
Barium Enema ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Transitional Zone ◽  
Lateral View ◽  
Erect Posture ◽  
Female Ratio ◽  
X Ray ◽  
Medical College

The anticipated level of aganglionosis can influence the surgical planning in Hirschsprung's disease (HD). The aim of this study was to find out the role of barium enema in diagnosis of HD. Barium enema is usually performed in patients referred for investigation for constipation. This prospective study was performed in the department of pediatric surgery Chittagong Medical College & Hospital. During this period a total of 198 patients were clinically diagnosed as HD. All patients were initially evaluated by plain x- ray abdomen in erect posture. Among 198 patients, 43 patients had perforation in plain x- ray and 31 were clinically unstable at presentation. Those 74 patients were excluded from the study. Rest 124 participating patients were divided into three groups: Neonate, Infant and children according to their age. Male to female ratio was 2.44: I. Barium enema X- ray early film, 24 hours delayed film (Antero-posterior and lateral view) were done for every patient. Length of radiological narrow zone (RNZ), radiological Transitional zone (RTZ) and Recto-sigmoid index (RSI) was measured in cm. Photo of X- ray was taken for every patient. RIZ was demonstrated in 74 (60%) patients. RNZ was demonstrated in 94 (75%) studied population. RSI was measured in 65 (52.42%) subjects. Retention of barium more than 24 hours was found in 95 (75%) patients. Redundant sigmoid colon was found in 54 (43.5%) patients. Right-sided sigmoid colon was present in 46(30.6%) patients. Saw-toothed appearance in spastic colon was seen in 38 (30.6%) patients. Mucosal edema and irregularities were present in 25 (20.2%) patients. Rounded transverse colon was seen in 6 children. Barium mixed with stool was found in 32 (25.8%) patients. Mosaic pattern of colon was present in 10 patients. Visualization of RTZ is a reliable sign ofH13. Besides the RIZ BE in HD has various other radiological features.

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.

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