Diagnosis of Hirschsprung Disease

Hirschsprung Disease Diagnosis: Calretinin Marker Role in Determining the Presence or Absence of Ganglion Cells

Background: Hirschsprung disease is a complex genetic disorder of the enteric nervous system (ENS), often called congenital aganglionic megacolon and characterized by the absence of enteric neurons along a variable length of the intestine. The definitive diagnosis of Hirschsprung disease relies on histologic and/or histochemical staining of sections fr...

rectal biopsy for diagnosis of hirschsprung disease in constipated children

background: constipation is a common problem in children and most of them are idiopathic or functional. only a few percent of constipations may relate to hirschsprung disease (hd) and may need to rectal biopsy for diagnosis. now a day, most of these children referred to the pediatric surgeon for rectal biopsy to rule out of hd. with regard to complication, emotional effect, spending time and th...

Title Hirschsprung ' s disease

hirschsprung disease diagnosis: calretinin marker role in determining the presence or absence of ganglion cells

background: hirschsprung disease is a complex genetic disorder of the enteric nervous system (ens), often called congenital aganglionic megacolon and characterized by the absence of enteric neurons along a variable length of the intestine. the definitive diagnosis of hirschsprung disease relies on histologic and/or histochemical staining of sections from suction rectal biopsies. calretinin immu...

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...