Hirschsprung Disease: Duhamel-Martin Experiences

Title Hirschsprung ' s disease

Association of Joubert syndrome and Hirschsprung disease.

BACKGROUND Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen. OUTCOME Child underwent surgical repair for Hirschsprung disease. MESSAGE Association of these two rare entities co...

A Hirschsprung disease locus at 22q11?

We report a boy with truncus arteriosus, dysmorphic features, developmental delay, passing hypotonia, short segment Hirschsprung disease (HSCR), and paroxysmal hypoventilation. FISH analysis showed an interstitial deletion in chromosome band 22q11.2 coinciding with the deletions found in DiGeorge syndrome and velocardiofacial syndrome. Mutation scanning of RET, GDNF, EDNRB, and EDN3, genes asso...

Total colonic aganglionosis in Hirschsprung disease.

Total colonic aganglionosis (TCA) is a relatively uncommon form of Hirschsprung disease (HSCR), occurring in approximately 2%-13% of cases. It can probably be classified as TCA (defined as aganglionosis extending from the anus to at least the ileocecal valve, but not >50 cm proximal to the ileocecal valve) and total colonic and small bowel aganglionosis, which may involve a very long segment of...

Hirschsprung ' s disease . Suction biopsy in

In the management of chronic constipation Hirschsprung's disease may be diagnosed on the basis of radiological investigation, anorectal manometry, and rectal biopsy. Though x ray films and manometric studies may be highly suggestive, the definitive diagnosis requires rectal biopsy.' 2 The classical method of rectal biopsy involves taking a full thickness of rectal mucosa and underlying muscle, ...