Total colonic aganglionosis in
Hirschsprung disease.
The definitive finding that defines
Hirschsprung disease is absence of ganglion cells in the submucosal and myenteric plexuses in an adequate biopsy specimen of the rectum located more than 2 cm above the pectinate line.
Contrast enema revealed important gas distension of the colon, with a narrowing of the distal colon at less than half the normal diameter, with proximal dilation, the presence of a transition zone between sigmoid and descendent colon; important reduction of the rectum caliber, with filamentous ending, typical aspect for the
Hirschsprung disease, with rectosigmoid aganglionosis (Figure 1).
Can we stop looking: immunohistochemistry and the diagnosis of
Hirschsprung disease.
Evaluation of serosal nerves in
Hirschsprung Disease.
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic
Hirschsprung disease.
Testicular torsion, incarcerated hernia, intussusception,
Hirschsprung disease, appendici volvulus, bowel perforation.
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and
Hirschsprung disease.
The results of the October 2001 review indicated "no evidence of
Hirschsprung disease.
He was diagnosed with
Hirschsprung Disease by doctors who said he had a blockage in his large intestine which had caused an infection.
Sometimes, difficulties with bowel movements are due to a single cause, including conditions such: as
Hirschsprung disease, tethered spinal cord, thyroid disease, a malformed, misplaced, or otherwise obstructed anus; a wide variety of medications; toxins such as lead; and dietary allergies, in particular to cow's milk.
During a three-day inquest at Bootle Town Hall, the jury heard how Miss Murray, a trainee hotel manager, had suffered from a rare bowel disorder known as
Hirschsprung disease since early childhood.
