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Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease.

ABSTRACT: 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.

SUBMITTER: Sreedher G

PROVIDER: S-EPMC6222261 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease.

Sreedher Gayathri G Garrison Aaron A Novak Robert R Keisling Matthew M Ganapathy Shankar Srinivas SS

Radiology case reports 20181103 2

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. T ...[more]

PMID: 30416639

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