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Hirschsprung disease with Edward syndrome: A rare association: A case report
Bibek Man Shrestha1, Diwan Shrestha2, Suraj Shrestha1
1Maharajgunj Medical Campus, Institute of Medicine, Kathmandu, Nepal.
Insights
Edward syndrome (trisomy 18) can manifest with Hirschsprung disease, a gastrointestinal malformation. Early diagnosis and management are crucial, though prognosis remains poor.
Area of Science:
- Genetics
- Pediatrics
- Gastroenterology
Background:
- Edward syndrome (trisomy 18) is a genetic disorder characterized by multisystem congenital anomalies.
- Gastrointestinal malformations are common in Edward syndrome, with Hirschsprung disease being a documented association.
Purpose of the Study:
- To highlight the association between Edward syndrome and Hirschsprung disease.
- To discuss the clinical presentation and management of this combined condition.
Main Methods:
- Case presentation of a neonate with Edward syndrome and symptoms suggestive of Hirschsprung disease.
- Review of literature on gastrointestinal malformations in Edward syndrome.
Main Results:
- The infant presented with bilious vomiting, abdominal distension, and failure to pass stool, consistent with intestinal obstruction.
- Edward syndrome was confirmed, and its association with Hirschsprung disease was noted.
Conclusions:
- Edward syndrome can present with Hirschsprung disease as part of its gastrointestinal manifestations.
- Antenatal diagnosis and termination may reduce suffering; surgical correction and supportive care are vital but prognosis is poor.
Introduction And Importance:
Edward's syndrome (ES) occurs as a result of trisomy of chromosome 18 and is associated with multisystem congenital anomalies. The association of ES with various gastrointestinal malformations but Hirschsprung disease (HD) is well documented.
Case Presentation:
A female infant on her 5th day of life presented with episodes of bilious vomiting along with abdominal distension and no passage of stool. The child had a small head and prominent occiput, low set abnormal ears, small jaw, upturned nose, widely spaced eyes, small neck with widely spaced nipples, clenched hands with overlapping fingers, flexed big toe, and prominent heels.
Clinical Discussion:
Edward syndrome is associated with multisystem congenital abnormalities of which gastrointestinal abnormalities make up the most part. The condition can be identified by fetal ultrasound screening. Surgical correction of associated congenital anomalies at different times along with lifelong supportive management is important.
Conclusions:
Edward syndrome can present as Hirschsprung disease as a part of associated gastrointestinal Malformation. Often, early identification and termination of the pregnancy in antenatal life can reduce the suffering. Surgical correction of associated anomalies along with supportive care forms the cornerstone of management. However, the prognosis remains poor.
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