Coexistent Hirschsprung's disease and esophageal achalasia in male siblings.
AffiliationDepartment of Surgery, Cork University Hospital, Ireland.
MetadataShow full item record
CitationJ Pediatr Surg. 1997 Dec;32(12):1809-11.
JournalJournal of pediatric surgery
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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