Hirschsprung's Disease and Allied Disorders

Puri,

doi:10.1007/978-3-540-33935-9

Cited by 44 publications

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“…The extent of aganglionosis was classified as either short segment, defined as an aganglionic colonic segment limited to the rectosigmoid and upper sigmoid, or long segment, defined as aganglionosis that extends to the splenic flexure or to the transverse colon [6].…”

Section: Methodsmentioning

confidence: 99%

“…The disease can be associated with neurological, cardiovascular, urologic, or gastrointestinal abnormalities. Down syndrome (trisomy 21) is the most common chromosomal abnormality associated with the disease, occurring in approximately 10% of patients [6]. Early diagnosis is important to avoid complications (e.g., enterocolitis and colonic rupture).…”

Section: Introductionmentioning

confidence: 99%

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The Prevalence and Clinical Profile of Hirschsprung’s Disease at a Tertiary Hospital in Bahrain

Ali¹,

Haider²,

Alhindi³

2021

Cureus

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Background Hirschsprung’s disease (HD) is a rare but important congenital pediatric disease of the colon, and its incidence varies widely between ethnic groups. Its incidence was first studied in Bahrain in 1980 using hospital-based data. Over a 16-month period, 10 cases were reported, representing a relatively high incidence rate: 1 per 4000 births. Even though the number of live births in Bahrain has increased dramatically over the last four decades (doubling from 10,000 to 20,000 per year), published studies about the incidence of HD are uncommon. In this research, we aimed to determine both the prevalence and the clinical characteristics of HD at a tertiary hospital in Bahrain. Methods This retrospective observational cross-sectional study included children diagnosed with HD at a tertiary hospital in Bahrain over the last seven years (2014-2020). Children over 10 years were excluded. Clinical data collected included gestational age, birth weight, gender, associated anomalies, clinical features at presentation, disease management, and complications. Results The prevalence of HD in Bahrain was found to be 1.3 per 10,000 live births, according to 18 patients qualified for inclusion in this study. The median age at diagnosis was 18 days; approximately 72% were males, and nearly 94% were Bahraini nationals. Three patients (16.7%) had associated anomalies including cardiac and urogenital malformations. Abdominal distention was the most common clinical presentation (83.3%) followed by constipation (77.8%). Half of the patients (50%) passed meconium within 48 hours of birth. Transanal full-thickness rectal biopsy was the method of diagnosis in most patients (83.3%). Seven patients (38.9%) were diagnosed comparatively late (beyond the neonatal period), at a mean age of 1-2 years. Significant associations between age at diagnosis and clinical presentation, initial management, or surgical intervention were not found. A total of 17 patients (94.4%) underwent the definitive surgery (transanal pull-through procedure). In this surgical group, initial colonic decompression was performed via rectal washout in six patients (35.3%) and via temporary stoma in three patients (17.8%). Laparotomy combined with the definitive surgery was necessary for six patients (35.3%). Most of the patients treated surgically had a short segment disease (70.5%). Conclusions The awareness of HD is highly important, especially with more than one-third of cases diagnosed outside the neonatal period and half of them passing meconium within 48 hours of birth. In addition, early detection of HD in the neonatal period would result in a less complicated course by reducing the number of patients requiring a multi-stage surgery and further laparotomies.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The Prevalence and Clinical Profile of Hirschsprung’s Disease at a Tertiary Hospital in Bahrain

Ali¹,

Haider²,

Alhindi³

2021

Cureus

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“…In this patient with rapidly declining status and concern for perforation, the typical diagnostic work-up could not be completed; however, it was included here for completeness. It should be noted that while this case presents the shortsegment variant of AHD, many other subtypes have been identified including intestinal neuronal dysplasia, isolated hypoganglionosis, absence of the argyrophil plexus, and internal anal sphincter achalasia, among others [14,[21][22][23].…”

Section: Discussionmentioning

confidence: 92%

Ultrashort-Segment Hirschsprung's Disease Complicated by Megarectum and Obstructive Uropathy: A Case Report

Glasgow,

Lintzeris,

Stockton

et al. 2023

Cureus

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Adult Hirschsprung's disease (AHD) is a rare condition characterized by a shortened aganglionic segment in the distal colon or rectum that is diagnosed after the age of 10. Diagnostic challenges stem from its rarity, nonspecific presentation, and often delayed consideration following emergent interventions. This report details the case of a 33-year-old male who presented with chronic constipation and abdominal pain, leading to a severe bowel obstruction attributed to self-reported Hirschsprung's disease (HD). Clinical, radiological, and historical aspects were suggestive of AHD, but definitive diagnostic procedures, including manometry and biopsy, were hindered by the patient's deteriorating condition. Exploratory laparotomy unveiled a secondary small bowel obstruction due to volvulus, necessitating immediate intervention, resulting in the removal of 4000 cc of fecal material. A comprehensive resection involving mid-to-distal transverse colon, left colon, sigmoid colon, and proximal rectum with the creation of Hartman's colostomy was performed due to the patient's worsening clinical status. We present a case of possible ultrashort-segment Hirschsprung's disease (USHD) and sketch a classic presentation of AHD. This endeavor aims to enhance awareness and consideration of AHD and/or USHD within the spectrum of potential diagnoses for chronic constipation when relevant and demonstrate the effectiveness of surgical intervention in this population.

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“…Another study showed that HAEC admissions decreased by 30% with each doubling of age at diagnosis. Early initial management might be more important than definitive surgery itself, for example, colonic irrigation to reduce the size of distended colon and giving probiotics to maintain intestinal integrity, and controlling cytokines' regulatory effect, which would affect the maturation and development of gut immunity (26)(27)(28). One study showed that patients with underweight status have higher proportion of colitis/enteritis after colorectal resection when compared to normal or obese patients (29).…”

Section: Association Between Risk Factors and Haec After Teptmentioning

confidence: 99%

Comparison of Two Different Cut-Off Values of Scoring System for Diagnosis of Hirschsprung-Associated Enterocolitis After Transanal Endorectal Pull-Through

et al. 2021

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Background: Hirschsprung-associated enterocolitis (HAEC) is a major contributor in the mortality of Hirschsprung disease (HSCR) patients that can occur both preoperatively and post-operatively. Several cut-off values of HAEC score have been used, i.e., ≥10 and ≥4. Here, we compared the HAEC frequency after transanal endorectal pull-through (TEPT) using two cut-offs of scoring system and associated them with the risk factors.Methods: Cross-sectional analysis was conducted using medical records of HSCR patients who were aged ≤18 years old and underwent TEPT at our institution, Indonesia between 2009 and 2016. HAEC was determined using the scoring system with cut-off values of ≥10 and ≥4.Results: Seventy subjects were used in the final analysis, consisting of 44 males and 26 females. There was a significant difference in one HAEC finding between the ≥10 and ≥4 cut-off groups; diarrhea with explosive stools (p = 0.002). The HAEC frequency was 5/70 (7.1%) and 49/70 (70%) patients using cut-off values of ≥10 and ≥4 (p < 0.0001), respectively. We found that patients with anemia (i.e., iron deficiency anemia) had a higher risk of HAEC after TEPT than patients with normal hemoglobin level with OR of 3.77 (95% CI = 1.28–11.1; p = 0.027), while no associations were found between other variables, including sex, age at diagnosis, age at definitive therapy, albumin level, and nutritional status and HAEC following TEPT (p = 0.87, 0.15, 0.33, 0.26, and 0.60, respectively). Also, no associations were observed between maternal education level, mother's age at pregnancy and gestational age and HAEC after definitive surgery (p = 0.10, 0.46, and 0.86, respectively).Conclusions: This report is the first study comparing two different cut-off values of scoring system to evaluate the HAEC frequency after TEPT and results suggest further using cut-off of ≥4 to expand the diagnosis of HAEC. Moreover, we also show for the first time that hemoglobin level is a strong risk factor for the HAEC development after TEPT.

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Hirschsprung's Disease and Allied Disorders

Cited by 44 publications

References 0 publications

The Prevalence and Clinical Profile of Hirschsprung’s Disease at a Tertiary Hospital in Bahrain

The Prevalence and Clinical Profile of Hirschsprung’s Disease at a Tertiary Hospital in Bahrain

Ultrashort-Segment Hirschsprung's Disease Complicated by Megarectum and Obstructive Uropathy: A Case Report

Comparison of Two Different Cut-Off Values of Scoring System for Diagnosis of Hirschsprung-Associated Enterocolitis After Transanal Endorectal Pull-Through

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