Hirschsprung's disease: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = Hirschsprung's disease | |||
| image = [[File:Hirschsprung_acetylcholine.jpg|250px]] | |||
| caption = Histological image showing absence of ganglion cells in Hirschsprung's disease | |||
| field = [[Gastroenterology]], [[Pediatric surgery]] | |||
| synonyms = Congenital aganglionic megacolon | |||
| symptoms = [[Constipation]], [[abdominal distension]], [[vomiting]], [[failure to thrive]] | |||
| complications = [[Enterocolitis]], [[bowel obstruction]], [[perforation]] | |||
| onset = [[Neonatal]] | |||
| duration = Long-term | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]], [[Down syndrome]], [[Waardenburg syndrome]] | |||
| diagnosis = [[Rectal biopsy]], [[anorectal manometry]], [[contrast enema]] | |||
| differential = [[Chronic constipation]], [[intestinal pseudo-obstruction]] | |||
| treatment = [[Surgical resection]] of the affected bowel segment | |||
| medication = [[Laxatives]], [[antibiotics]] for complications | |||
| prognosis = Generally good with treatment | |||
| frequency = 1 in 5,000 live births | |||
| deaths = Rare with treatment | |||
}} | |||
{{Short description|A congenital condition affecting the colon}} | {{Short description|A congenital condition affecting the colon}} | ||
== | == Introduction == | ||
[[File:Hirschsprung.jpg|thumb | [[File:Hirschsprung.jpg|left|thumb|Diagram illustrating the affected colon in Hirschsprung's disease]] | ||
'''Hirschsprung's disease''' is a congenital condition characterized by the absence of [[ganglion cells]] in the [[colon]], leading to severe [[constipation]] or [[intestinal obstruction]]. This condition is also known as congenital aganglionic megacolon. It is named after the Danish physician [[Harald Hirschsprung]], who first described the condition in 1888. | '''Hirschsprung's disease''' is a congenital condition characterized by the absence of [[ganglion cells]] in the [[colon]], leading to severe [[constipation]] or [[intestinal obstruction]]. This condition is also known as congenital aganglionic megacolon. It is named after the Danish physician [[Harald Hirschsprung]], who first described the condition in 1888. | ||
== Pathophysiology == | == Pathophysiology == | ||
In Hirschsprung's disease, the absence of ganglion cells occurs in the [[myenteric plexus]] and [[submucosal plexus]] of the bowel. This results in a lack of peristalsis in the affected segment, causing a functional obstruction. The proximal bowel becomes dilated due to the accumulation of fecal material, leading to the characteristic megacolon. | In Hirschsprung's disease, the absence of ganglion cells occurs in the [[myenteric plexus]] and [[submucosal plexus]] of the bowel. This results in a lack of peristalsis in the affected segment, causing a functional obstruction. The proximal bowel becomes dilated due to the accumulation of fecal material, leading to the characteristic megacolon. | ||
== Clinical Presentation == | == Clinical Presentation == | ||
The disease typically presents in [[newborn]]s with symptoms such as failure to pass [[meconium]] within the first 48 hours of life, abdominal distension, and vomiting. In older children, it may present as chronic constipation, [[failure to thrive]], and [[enterocolitis]]. | The disease typically presents in [[newborn]]s with symptoms such as failure to pass [[meconium]] within the first 48 hours of life, abdominal distension, and vomiting. In older children, it may present as chronic constipation, [[failure to thrive]], and [[enterocolitis]]. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis is confirmed through a combination of clinical evaluation, radiological imaging, and histopathological examination. A [[barium enema]] may show a transition zone between the normal and affected bowel. A definitive diagnosis is made by a rectal biopsy demonstrating the absence of ganglion cells. | Diagnosis is confirmed through a combination of clinical evaluation, radiological imaging, and histopathological examination. A [[barium enema]] may show a transition zone between the normal and affected bowel. A definitive diagnosis is made by a rectal biopsy demonstrating the absence of ganglion cells. | ||
== Treatment == | == Treatment == | ||
The primary treatment for Hirschsprung's disease is surgical. The most common procedure is the pull-through surgery, where the aganglionic segment is resected, and the normal bowel is anastomosed to the [[anus]]. | The primary treatment for Hirschsprung's disease is surgical. The most common procedure is the pull-through surgery, where the aganglionic segment is resected, and the normal bowel is anastomosed to the [[anus]]. | ||
== Prognosis == | == Prognosis == | ||
With appropriate surgical intervention, most children with Hirschsprung's disease can lead normal lives. However, some may experience complications such as enterocolitis, fecal incontinence, or constipation post-surgery. | With appropriate surgical intervention, most children with Hirschsprung's disease can lead normal lives. However, some may experience complications such as enterocolitis, fecal incontinence, or constipation post-surgery. | ||
== See also == | |||
== | |||
* [[Congenital disorder]] | * [[Congenital disorder]] | ||
* [[Intestinal obstruction]] | * [[Intestinal obstruction]] | ||
* [[Pediatric surgery]] | * [[Pediatric surgery]] | ||
[[Category:Congenital disorders of digestive system]] | [[Category:Congenital disorders of digestive system]] | ||
[[Category:Pediatric diseases]] | [[Category:Pediatric diseases]] | ||
Latest revision as of 04:20, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's weight loss doctor NYC
Philadelphia GLP-1 weight loss and GLP-1 clinic NYC
| Hirschsprung's disease | |
|---|---|
| File:Hirschsprung acetylcholine.jpg | |
| Synonyms | Congenital aganglionic megacolon |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Constipation, abdominal distension, vomiting, failure to thrive |
| Complications | Enterocolitis, bowel obstruction, perforation |
| Onset | Neonatal |
| Duration | Long-term |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history, Down syndrome, Waardenburg syndrome |
| Diagnosis | Rectal biopsy, anorectal manometry, contrast enema |
| Differential diagnosis | Chronic constipation, intestinal pseudo-obstruction |
| Prevention | N/A |
| Treatment | Surgical resection of the affected bowel segment |
| Medication | Laxatives, antibiotics for complications |
| Prognosis | Generally good with treatment |
| Frequency | 1 in 5,000 live births |
| Deaths | Rare with treatment |
A congenital condition affecting the colon
Introduction[edit]
Hirschsprung's disease is a congenital condition characterized by the absence of ganglion cells in the colon, leading to severe constipation or intestinal obstruction. This condition is also known as congenital aganglionic megacolon. It is named after the Danish physician Harald Hirschsprung, who first described the condition in 1888.
Pathophysiology[edit]
In Hirschsprung's disease, the absence of ganglion cells occurs in the myenteric plexus and submucosal plexus of the bowel. This results in a lack of peristalsis in the affected segment, causing a functional obstruction. The proximal bowel becomes dilated due to the accumulation of fecal material, leading to the characteristic megacolon.
Clinical Presentation[edit]
The disease typically presents in newborns with symptoms such as failure to pass meconium within the first 48 hours of life, abdominal distension, and vomiting. In older children, it may present as chronic constipation, failure to thrive, and enterocolitis.
Diagnosis[edit]
Diagnosis is confirmed through a combination of clinical evaluation, radiological imaging, and histopathological examination. A barium enema may show a transition zone between the normal and affected bowel. A definitive diagnosis is made by a rectal biopsy demonstrating the absence of ganglion cells.
Treatment[edit]
The primary treatment for Hirschsprung's disease is surgical. The most common procedure is the pull-through surgery, where the aganglionic segment is resected, and the normal bowel is anastomosed to the anus.
Prognosis[edit]
With appropriate surgical intervention, most children with Hirschsprung's disease can lead normal lives. However, some may experience complications such as enterocolitis, fecal incontinence, or constipation post-surgery.
