Product information "Hirschsprung's Disease"
Clinical History
A 5-year-old boy had a history of constipation since birth. A barium enema revealed a narrow rectum and a dilated sigmoid colon. Surgical resection of the affected bowel segment was attempted, but the patient died during the procedure.
Pathology
The specimen shows a massively dilated sigmoid colon with loss of normal mucosal pattern. The adjacent rectum appears normal in size and structure but lacks ganglion cells in the myenteric plexus. This is consistent with Hirschsprung’s disease (congenital aganglionic megacolon).
Further Information
Hirschsprung’s disease results from the absence of parasympathetic ganglia in a segment of the bowel, most commonly the rectum. This leads to impaired peristalsis and functional obstruction. It is caused by a failure of neural crest cells to migrate during embryogenesis. The proximal colon becomes hypertrophied and dilated, increasing the risk of complications like enterocolitis and perforation.
The disease occurs in approximately 1 in 5000 live births, more often in males and those with genetic syndromes such as Down syndrome. Mutations in the RET gene are implicated in many familial and some sporadic cases.
Symptoms range from failure to pass meconium in newborns to chronic constipation and abdominal distension in older children. The standard treatment is surgical resection of the aganglionic bowel and connection of the healthy bowel to the rectum.
A 5-year-old boy had a history of constipation since birth. A barium enema revealed a narrow rectum and a dilated sigmoid colon. Surgical resection of the affected bowel segment was attempted, but the patient died during the procedure.
Pathology
The specimen shows a massively dilated sigmoid colon with loss of normal mucosal pattern. The adjacent rectum appears normal in size and structure but lacks ganglion cells in the myenteric plexus. This is consistent with Hirschsprung’s disease (congenital aganglionic megacolon).
Further Information
Hirschsprung’s disease results from the absence of parasympathetic ganglia in a segment of the bowel, most commonly the rectum. This leads to impaired peristalsis and functional obstruction. It is caused by a failure of neural crest cells to migrate during embryogenesis. The proximal colon becomes hypertrophied and dilated, increasing the risk of complications like enterocolitis and perforation.
The disease occurs in approximately 1 in 5000 live births, more often in males and those with genetic syndromes such as Down syndrome. Mutations in the RET gene are implicated in many familial and some sporadic cases.
Symptoms range from failure to pass meconium in newborns to chronic constipation and abdominal distension in older children. The standard treatment is surgical resection of the aganglionic bowel and connection of the healthy bowel to the rectum.
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Erler-Zimmer
Erler-Zimmer GmbH & Co.KG
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Germany
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Achtung! Medizinisches Ausbildungsmaterial, kein Spielzeug. Nicht geeignet für Personen unter 14 Jahren.
Attention! Medical training material, not a toy. Not suitable for persons under 14 years of age.
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