scholarly journals A prospective observational study of associated anomalies in hirschsprung’s disease

2019 ◽  
Vol 7 (1) ◽  
pp. 112
Author(s):  
Monali Madhukar Patole ◽  
Mandar Madhukar Patole ◽  
Subhasish Paul
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Heart Diseases ◽  
Genetic Disorders ◽  
Tertiary Care ◽  
Standards Of Care ◽  
Associated Anomalies ◽  
Variable Expression ◽  
Medical College

Background: Hirschsprung’s Disease (HSCR) is the commonest congenital gut motility disorder and is characterized by the absence of ganglion cells in a variable length of the distal gut. According to literature , HRSCD may be associated with a chromosomal abnormality or other congenital anomalies in approximately 20% of cases HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the a ganglionic segment, suggesting the involvement of one or more gene (s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance. The objective of this study was to collect and study personal and family history and any information regarding known associated anomalies in patients diagnosed as Hirschsprung's disease.Methods: Here author present a series of 89 consecutive HSCR patients who were admitted or attended the Pediatric Surgery OPD of in a tertiary care Government medical college, who were evaluated for associated malformations with the help of available non-invasive investigation.Results: Congenital heart diseases and Down’s syndrome were the two most common associated anomalies. Genitourinary anomalies, Limb anomalies and central nervous system anomalies were other associated anomalies. Conclusions: This study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as CNS anomalies. Based on the results of this study, in addition to meticulous general examination author suggest performing cardiologic assessment in patients diagnosed with Hirschsprung’s disease based on clinical features and according to the standards of care adopted for the general population.

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.

scholarly journals Immunohistochemistry-based comparative study in detection of Hirschsprung’s disease in infants in a Tertiary Care Center

2017 ◽  
Vol 9 (02) ◽  
pp. 076-080 ◽  
Author(s):  
Bedabrata Mukhopadhyay ◽  
Moumita Sengupta ◽  
Chhanda Das ◽  
Madhumita Mukhopadhyay ◽  
Shibsankar Barman ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Ganglion Cells ◽  
Care Center ◽  
Tertiary Care ◽  
Nerve Fibers ◽  
Presenting Symptoms ◽  
Male Preponderance ◽  
Indispensable Tool ◽  
Sensitivity Specificity

Abstract BACKGROUND: Hirschsprung’s disease (HD) is the major cause of pediatric intestinal obstruction with a complex pattern of inheritance. The absence of ganglion cells along with an analysis of hypertrophy and hyperplasia of nerves in the nerve plexus of submucosa and muscularis mucosae is regarded as a potential hallmark for its diagnosis. AIMS AND OBJECTIVES: This study was undertaken to ascertain the (1) clinical profile, (2) mode of presentation, and (3) to compare the role of calretinin immunostaining with acetylcholinesterase in the diagnosis of HD. MATERIALS AND METHODS: This prospective and observational study was conducted in the Department of Pathology, IPGME & R from June 2014 to May 2015. One hundred and four patients clinically and radiologically diagnosed with HD underwent surgery were included in the study. The data of every patient including age, sex, and presenting symptoms were recorded. Eventually, histopathological, calretinin, and acetylcholinesterase immunohistochemical examination were done. RESULTS: Total numbers of cases studied were 104, which aged between 0 days and 365 days. Male preponderance (76.92%) was noted. The overall sensitivity, specificity, positive, and negative predictive value of acetylcholinesterase were 100%, 86.44%, 84.91%, and 100%, respectively. The concordance of detection of ganglion cells and nerve fibers, and thereby diagnosis of Hirschsprung’s and non-HD using calretinin and the gold standard was statistically in strong agreement (κ = 0.749, 95% confidence interval: 0.635–0.863). CONCLUSIONS: Calretinin stands out as the single and indispensable tool that differentiates HD from other mimickers.

Hirschsprung's Disease in the Preterm Infant: Implications for Diagnosis and Outcome

2013 ◽  
Vol 79 (7) ◽  
pp. 734-738 ◽  
Author(s):  
Katherine J. Baxter ◽  
Amina M. Bhatia
Keyword(s):  
Preterm Infant ◽  
Preterm Infants ◽  
Surgical Outcomes ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Clinical Presentation ◽  
Ganglion Cells ◽  
Delayed Diagnosis ◽  
Associated Anomalies ◽  
Pull Through

Hirschsprung's disease (HD), congenital absence of ganglion cells, is considered uncommon in preterm infants. The aim was to describe the frequency, presentation, and surgical outcomes of preterm infants with HD. A retrospective cohort study was conducted of all patients diagnosed with HD from 2002 to 2012 at a single children's hospital. Clinical presentation and surgical outcomes were obtained for term (37 weeks of gestation or greater) and preterm infants. One hundred twenty-nine subjects with HD were identified, 24 (19%) preterm and 105 (81%) term. Preterm infants were more likely to be diagnosed after 30 days of life (66.7 vs 37.1%, P < 0.01; median age 2.9 vs 0.3 months, P < 0.05) and to have associated major congenital anomalies (45.8 vs 20.0%, P < 0.01). Fewer preterm infants had primary pull-through operations (45.8 vs 76.2%, P < 0.005). Preterm infants were more likely to have an episode of Hirschsprung's-associated enterocolitis (45.8 vs 24.0%, P < 0.05) but were not more likely to die from any cause (8.3 vs 5.8%, P = 0.64). HD may be more common in preterm infants than previously recognized, and increased comorbidities in these patients may lead to delayed diagnosis and increased morbidity. HD should be considered in the preterm infant presenting with a bowel obstruction, especially when accompanied by associated anomalies.

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

The outcome of single-stage management of Hirschsprung's disease at a tertiary care center

2020 ◽  
Vol 10 (1) ◽  
pp. 17
Author(s):  
Zaheer Hasan ◽  
VinitKumar Thakur ◽  
Digamber Chaubey ◽  
Ramdhani Yadav ◽  
Ramjee Prasad ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Care Center ◽  
Tertiary Care ◽  
Single Stage ◽  
Tertiary Care Center ◽  
Stage Management

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.

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 prospective observational study of associated anomalies in Hirschsprung’s disease

2013 ◽  
Vol 8 (1) ◽  
pp. 184 ◽  
Author(s):  
Alessio Pini Prato ◽  
Valentina Rossi ◽  
Manuela Mosconi ◽  
Catarina Holm ◽  
Francesca Lantieri ◽  
...  
Keyword(s):  
Observational Study ◽  
Hirschsprung's Disease ◽  
Prospective Observational Study ◽  
Hirschsprung’S Disease ◽  
Associated Anomalies

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.

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