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.

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

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 Oesophageal atresia with tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease: outcome of a rare phenotype

2019 ◽  
Vol 12 (2) ◽  
pp. e226675 ◽  
Author(s):  
Liliana Pimenta Santos ◽  
Diana Coimbra ◽  
Catarina Cunha ◽  
Maria Francelina Lopes
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Neonatal Period ◽  
Ganglion Cells ◽  
Oesophageal Atresia ◽  
Intestinal Atresia ◽  
Successful Outcome ◽  
Ileal Atresia ◽  
Prolonged Hospitalisation ◽  
Rare Phenotype

Oesophageal atresia with or without tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease are surgical malformations of the gastrointestinal tract typically diagnosed early in the neonatal period and varying in severity and prognosis. This report describes a full-term male newborn presenting simultaneous oesophageal atresia with distal tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease. In addition to the complex types of gastrointestinal malformations involved, the combination of ileal atresia and Hirschsprung’s disease, as well as ganglion cells distal to intestinal atresia, resulted in a challenging diagnosis. Despite a successful outcome, the patient presented increased morbidity and prolonged hospitalisation. We highlight some important findings that may aid the early diagnosis of Hirschsprung’s disease in this clinical setting. To our knowledge, the association of oesophageal atresia/tracheo-oesophageal fistula, ileal atresia and Hirschsprung’s disease has not been previously reported.

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 PRESENTATION AND MANAGEMENT OF HIRSCHSPRUNG'S DISEASE IN INFANTS AT A TERTIARY CARE CENTRE AND OUTCOME OF PRIMARY PULL-THROUGH IN THESE PATIENTS.

2021 ◽  
pp. 1-4
Author(s):  
Magray Mudasir A ◽  
Mufti, Gowhar N ◽  
Quyoom Nazia ◽  
Bhat, Nisar A. ◽  
Baba, Aejaz A
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Frozen Section ◽  
Tertiary Care ◽  
Treatment Protocol ◽  
Rectal Biopsy ◽  
Water Soluble ◽  
Tertiary Care Centre ◽  
Young Infants ◽  
Pull Through

Hirschsprung's disease is a common cause of neonatal intestinal obstruction. The treatment of Hirschsprung's disease has evolved to a single stage pull-through. . The aim of study was to evaluate the feasibility of performing the primary pull-through surgery and to develop an optimum treatment protocol for patients of Hirschsprung's disease (HD) presenting to our institution. It was a prospective cohort study of newborn and young infants with features of Hirschsprung's disease conducted in our department from Oct. 2014, till Oct. 2018. The diagnosis was based on history, clinical examination, water soluble contrast enema and a definitive rectal biopsy. Transition zone was confirmed by intra-operative frozen section. Patients with weight of more than 5kgs and absence of features of concurrent enterocolitis, were taken for surgery. Patients included in the study underwent primary pull-through by different methods were put on strict follow-up protocol for 24 months and results were evaluated. Out of 40 patients of Hirschsprung's disease presented to SKIMS from Oct. 2014 till Oct. 2017,only 25 patients underwent primary pull-through. Mean age of patients at the time of pull-through was6.9±7.12 months and mean weight was 8.76 ±2.67kg. Delayed passage of meconium was seen in23 patients (92%). Preoperative rectal biopsy was done for confirmation of diagnosis and intra-operative frozen section for delineation level of aganglionosis. Laparoscopic transanal pull-through was most common operation done in 13 (52%) patients. Anastomotic leak was seen in 2(8%) patients, wound infection occurred 2(8%) patients, enterocolitis in1(4%) and constipation in 2 (8%) patients. One patient who had undergone trans-anal pull-through underwent a redo for a retained cuff. Primary pull-through is feasible and safe option with excellent results in neonates and infants with Hirschsprungs disease.

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.

scholarly journals Hirschsprung's disease: case report

2020 ◽  
Author(s):  
Pedro Nogarotto Cembraneli ◽  
Renata Brasileiro de Faria Cavalcante
Keyword(s):  
Case Report ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Neonatal Period ◽  
Ganglion Cells ◽  
Clinical Manifestations ◽  
Rectal Biopsy ◽  
Congenital Megacolon ◽  
X Ray ◽  
Disease Case

Introduction: Hirschsprung's Disease (DH), also known as Congenital Megacolon, has been described as a congenital disorder in Newborns (NB) with severe constipation associated with dilatation and hypertrophy of the colon. To elucidate the diagnosis, it is necessary to perform complementary tests, but the gold standard is rectal biopsy. The treatment is always surgical, aiming at the removal of the aganglionic part and the restoration of the continuity of the intestine. Thus, we chose to report a case of a 1-year and 10-monthold patient with chronic constipation from birth, who was diagnosed with DH, requiring surgical intervention. Case report: A 29 days of life male patient comes with a complaint that he has been evacuating in small quantities since birth, with feces that look yellowish, pasty and with a characteristic odor, intercalating with periods of constipation. Mother reports that the RN remained for up to a week without evacuating from birth. With the DH hypothesis, an x-ray of the abdomen, an opaque enema, and a rectal biopsy were performed confirming the hypothesis. We opted for surgical treatment where initially a colostomy was performed on a loop and then a rectosigmoidectomy with colon retraction. Discussion: HD is a congenital anomaly that affects 1 in 5,000 live births. It is characterized by the absence of ganglion cells, and 80 to 90% of the cases are diagnosed in the neonatal period. The delay between the onset of clinical manifestations and the investigation of the disease increases the risk of complications, with more frequent enterocolitis, in addition to increasing the morbimortality of the congenital megacolon. Conclusion: With the present study, we aimed to emphasize the need to alert the pediatrician to a better understanding of the clinical picture of HD, as well as its complications and the importance of performing the diagnosis early

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