Diagnosis of Hirschsprung's Disease: an age-related approach in children below or above one year

Aim The aim of this study was to evaluate the effectiveness of a differential diagnostic approach to Hirshchsprung's Disease (HD) on the basis of age. Method Data on 185 consecutive children with suspected HD were subjected to an age-related diagnostic approach. The patients were divided into two groups according to age (A < 1 year; B > 1 year). Children in Group A had rectal suction biopsy (RSB) and contrast enema (CE), and in Group B anorectal manometry (ARM) was performed. Patients with a normal recto-anal inhibitory reflex (RAIR) underwent bowel disimpaction and medical treatment. Only selected cases in Group B underwent RSB and CE. Results In Group A (18 patients) CE showed a colonic transitional zone in three patients, whereas RSB led to the diagnosis of HD in nine. In Group B (167 patients) ARM was not possible in seven patients and it was normal in 140 (normal anal sphincter pressure: 83; hypertonia of the internal anal sphincter: 57). The RAIR was negative in 20 patients. RSB performed in 31 children in Group B confirmed HD in three patients. Conclusions For patients with a neonatal onset of constipation RSB is the best diagnostic technique. Chronic constipation is rarely due to HD and ARM is a useful non-invasive screening tool.