Diagnostic Scoring System of Hirschsprung's Disease in the Neonatal Period

Abstract

Eighty to ninety percent of Hirschsprung's disease (HD) patients present in newborns. However, the diagnosis of HD in the neonatal period remains difficult. Our present study aims to propose a diagnostic scoring system and hope this will increase early diagnosis of HD and avoid unnecessary rectal biopsy. Methods: In the first study period, 57 suspected HD patients (0-3 months) completed our predetermined study protocol in which barium enema (BE), rectal manometry (RM) and full-thickness rectal biopsy were performed. Symptoms, signs and investigations were analysed for their correlation with HD diagnosis. A HD diagnostic scoring system was developed according to the statistical results and was assessed in 74 patients in the second study period. Results: Forty-five patients were diagnosed with HD in the first study period. A HD scoring system was developed in which delayed meconium, tight anus, BE and RM were diagnostic factors. A cut-off point of 3 provided 84% of HD patients score > 3, whereas 75% non-HD patients score £ 3 (p < 0.05). In the second study group, patients with score £ 3 were selected for rectal biopsy. Conclusion: In the neonatal period, using a HD scoring system may help to select patients for further invasive investigation so that unnecessary biopsy can be avoided.

Keywords

• Hirschsprung's disease
• neonatal period