Hirschsprung's disease, imperforate anus, and Down's syndrome: A case report Conferences

abstract

• Patients with trisomy 21 have a higher incidence of several gastrointestinal anomalies. However, the coexistence of imperforate anus, Hirschsprung's disease, and trisomy 21 had not been reported previously. This report describes the case of an infant girl born with trisomy 21 and imperforate anus, without a fistula, who presented with bowel obstruction 3 months after anoplasty. The obstruction was attributable to Hirschsprung's disease. This was managed by a leveling colostomy in the descending colon, followed by an endorectal pull-through after 4 weeks. She has a normal stooling pattern 11 months after colostomy closure. Hirschsprung's disease should be suspected in infants with trisomy 21 who have constipation after repair of imperforate anus. The authors believe that the endorectal pull-through is the safest technique to use for Hirschsprung's disease after a previous anoplasty.

authors

• Flageole, Helene
• Fecteau, A
• Laberge, J-M
• Guttman, FM

status

• published 

publication date

• June 1996

has subject area

• 1114 Paediatrics and Reproductive Medicine (FoR)
• Abnormalities, Multiple (MeSH)
• Anus, Imperforate (MeSH)
• Colostomy (MeSH)
• Down Syndrome (MeSH)
• Female (MeSH)
• Hirschsprung Disease (MeSH)
• Humans (MeSH)
• Infant, Newborn (MeSH)
• Infant, Premature (MeSH)
• Intestinal Obstruction (MeSH)
• Pediatrics (Science Metrix)

published in

• Journal of Pediatric Surgery  Journal

presented at event

• 27th Annual Meeting of the Canadian-Association-of-Paediatric-Surgeons  Conference

keywords

• Abnormalities, Multiple
• Anus, Imperforate
• Colostomy
• Down Syndrome
• Female
• Hirschsprung Disease
• Humans
• Infant, Newborn
• Infant, Premature
• Intestinal Obstruction

Digital Object Identifier (DOI)

• 10.1016/s0022-3468(96)90125-6

PubMed ID

• 8783095

start page

• 759

end page

• 760

volume

• 31

issue

• 6