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dc.contributor.authorKelly, J L
dc.contributor.authorMulcahy, T M
dc.contributor.authorO'Riordain, D S
dc.contributor.authorBuys, C H
dc.contributor.authorHofstra, R M
dc.contributor.authorMcCarthy, T
dc.contributor.authorKirwan, W O
dc.date.accessioned2012-02-03T15:14:54Z
dc.date.available2012-02-03T15:14:54Z
dc.date.issued2012-02-03T15:14:54Z
dc.identifier.citationJ Pediatr Surg. 1997 Dec;32(12):1809-11.en_GB
dc.identifier.issn0022-3468 (Print)en_GB
dc.identifier.issn0022-3468 (Linking)en_GB
dc.identifier.pmid9434037en_GB
dc.identifier.urihttp://hdl.handle.net/10147/209200
dc.description.abstractAchalasia of the esophagus developed in two male siblings soon after birth, and they were successfully treated by surgery. Persistent signs resulted in the later diagnosis of Hirschsprung's disease. One required subtotal colectomy and ileoanal anastomosis, and the other is managing well on conservative treatment. Genetic analysis of the genes encoding the RET protooncogene, endothelin-3, and the endothelin-3 receptor did not show any defect. Familial achalasia of the esophagus in combination with Hirschsprung's disease has never been reported.
dc.language.isoengen_GB
dc.subject.meshColectomyen_GB
dc.subject.meshEsophageal Achalasia/*complications/*genetics/surgeryen_GB
dc.subject.meshFundoplicationen_GB
dc.subject.meshHirschsprung Disease/*complications/*genetics/surgeryen_GB
dc.subject.meshHumansen_GB
dc.subject.meshInfanten_GB
dc.subject.meshMaleen_GB
dc.subject.meshProctocolectomy, Restorativeen_GB
dc.titleCoexistent Hirschsprung's disease and esophageal achalasia in male siblings.en_GB
dc.contributor.departmentDepartment of Surgery, Cork University Hospital, Ireland.en_GB
dc.identifier.journalJournal of pediatric surgeryen_GB
dc.description.provinceMunster
html.description.abstractAchalasia of the esophagus developed in two male siblings soon after birth, and they were successfully treated by surgery. Persistent signs resulted in the later diagnosis of Hirschsprung's disease. One required subtotal colectomy and ileoanal anastomosis, and the other is managing well on conservative treatment. Genetic analysis of the genes encoding the RET protooncogene, endothelin-3, and the endothelin-3 receptor did not show any defect. Familial achalasia of the esophagus in combination with Hirschsprung's disease has never been reported.


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