Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease.
Enteric neuropathy
Hirschsprung's disease
Intestinal hypoganglionosis
Journal
Radiology case reports
ISSN: 1930-0433
Titre abrégé: Radiol Case Rep
Pays: Netherlands
ID NLM: 101467888
Informations de publication
Date de publication:
Feb 2019
Feb 2019
Historique:
received:
04
09
2018
revised:
10
10
2018
accepted:
13
10
2018
entrez:
13
11
2018
pubmed:
13
11
2018
medline:
13
11
2018
Statut:
epublish
Résumé
Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered. This case also illustrates the role of full thickness rectal biopsy in selected cases such as ours where the radiologic features are typical of Hirschsprung's, despite negative suction biopsies.
Identifiants
pubmed: 30416639
doi: 10.1016/j.radcr.2018.10.007
pii: S1930-0433(18)30421-7
pmc: PMC6222261
doi:
Types de publication
Case Reports
Langues
eng
Pagination
171-174Références
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