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. 

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 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.

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 Early and long-term complications following transanal pull through Soave technique in infants with Hirschsprung's diseaseric infants with Hirschsprung's disease

2019 ◽  
Author(s):  
Manoochehr Ghorbanpour ◽  
Mohammad Ali Seyfrabie ◽  
Babak Yousefi
Keyword(s):  
Intestinal Obstruction ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Statistical Tests ◽  
Case Series ◽  
P Value ◽  
Short Term ◽  
Case Series Study ◽  
The Mean

Objective. Patients undergoing Soave surgery for Hirschsprung's disease are at risk for some complications. The aim of this study was to investigate such short-term and long-term complications and evaluate the outcome of the operation in these patients. Methods. A case series study was carried out during the last 12 years, during 2007 to 2018 in Besat hospital of Hamadan. Data collection conducted using a checklist includes questions about demographic information, clinical features, and short-term and long-term complications, and consequences of post-operative surgery. The findings of the study were analyzed using SPSS software version 20 and appropriate statistical tests. P-value less than 0.05 was considered statistically significant. Results. A total of 55 children underwent Soave surgery during the last 12 years in Besat Hospital Hamadan, Iran. The mean age of the patients was 38±10 days during surgery, of which 56.4% were female. The mean hospital stay was 7.3 days. Also, the mean weight of children at birth was 2970±447 gr. Most of the patients were born as NVD (52.7%) and term (74.5%). The most common comorbidity was congenital heart disease. The most common short-term complication was intestinal obstruction in 14 patients (25.5%) and the most frequent long-term complication was intestinal obstruction and constipation (27.3% each cases). The mortality rate of patients in this study was 14.5% in total. Conclusions. One stage surgical procedure in Hirschsprung's disease is a safe and effective method, but care should be taken in choosing patients and patients should be monitored for possible complications, so that they can be considered and implemented for proper treatment.

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 Intestinal Duplication and Hirschsprung's Disease: An Extremely Rare and Misleading Combination

2018 ◽  
Vol 06 (01) ◽  
pp. e94-e96
Author(s):  
Fabrizio Vatta ◽  
Alessandro Raffaele ◽  
Noemi Pasqua ◽  
Marco Brunero ◽  
Gloria Pelizzo ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Intestinal Obstruction ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Incidental Finding ◽  
Simultaneous Occurrence ◽  
Unique Case ◽  
Intestinal Duplication ◽  
Intestinal Occlusion

AbstractHirschsprung's disease and, more rarely, intestinal duplication can both cause intestinal obstruction in neonates. The simultaneous occurrence of these two diseases is reported in only two studies, and in both cases, intestinal duplication was an incidental finding, as it had not determined clinical intestinal occlusion. This paper reports a unique case of coexistence of the two conditions, with both causing intestinal obstruction, delayed appropriate, and definitive surgical treatment.

scholarly journals Familial Near-Total Intestinal Aganglionosis

2017 ◽  
Vol 6 (3) ◽  
pp. 62 ◽  
Author(s):  
Saida Hidouri ◽  
Hayet Zitouni ◽  
Jamila Chahed ◽  
Sana Mosbahi ◽  
Samia Belhassen ◽  
...  
Keyword(s):  
Intestinal Obstruction ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Rare Form ◽  
Total Intestinal Aganglionosis ◽  
Intestinal Aganglionosis

Near total aganglionosis represents the most extreme and rare form of Hirschsprung's disease. It can affect more than one member of family. We report three cases of near total intestinal aganglionosis in a family presenting with intestinal obstruction at birth. All of them were operated and a jejunostomy was performed. Outcome was dismal.

Sign in / Sign up

Export Citation Format

Share Document