0A-S7-3

VARIANT HIRSCHSPRUNG’S DISEASE

Prem Puri

Dublin, Ireland

The detection of acetylcholinesterase (AChE) in rectal suction biopsies has resulted in a reliable and simple method for the diagnosis of Hirschsprung’s disease. However, there are a number of clinical conditions that clinically resemble Hirschsprung’s disease despite the presence of ganglion cells that clinically resemble Hirschsprung’s disease despite the presence of ganglion cells on the rectal biopsy. These conditions have usually been referred to as “chronic idiopathic intestinal pseudoobstruction”. Our group has focused on delineating these various functional bowel disorders based on specific histochemical, immunohistochemical, silver staining, and electron microscopic studies.

Since 1981, it has been our policy to obtain suction rectal biopsy specimens from patients who have severe chronic constipation or are suspected to have functional intestinal obstruction. The suction rectal biopsy specimens are obtained at 1,3,5 and 7cm from pectinate line and examined by conventional hematoxylin and eosin (H & E) staining, histochemistry and immunohistochemistry. If the results of suction rectal biopsy show normal AchE activity in lamina propria and muscularis mucosae with normally appearing ganglion cells or without ganglion cells, and the patient continues to have signs and symptoms of obstruction or severe constipation, we perform a full-thickness rectal biopsy. Biopsy specimen is divided into five parts and processed for H & E staining silver staining, AchE histochemistry,immunohistochemistry, and electronmicroscopic studied.

Between 1981 and 2000, full-thickness rectal biopsy of resected surgical specimens from 126 patients (77 boys and 49 girls) with clinical symptoms suggesting HD, were examined in our research laboratory. Their ages ranged from 1 day to 9 years. Ninety-one patients had onset of symptoms in the neonatal period. Seventy-four patients were from Ireland and, in 52 patients, biopsy material was sent to our laboratory from other countries.