OBJECTIVES: to analyze clinical features of patients with Hirschprung's Disease (HD). METHODS: a retrospective institutional case study was carried out using the medical records of patients with HD attending the Fernandes Figueira Institute between 1993 and 2003. RESULTS: out of a total of 55 patients, 98% presented symptoms on birth, 47.2% of whom were diagnosed during the neonatal period; in 88.9% of cases the barium enema was conclusive; 69% had short segment HD; 16.3% Down's Syndrome; 15.2% other congenital anomalies; 40% were screened for RET mutations associated with multiple endocrine neoplasias (MEN2A), although none were detected; 63.6% had staged pull-through surgery on the colon or ileum; 12.72% primary transanal endorectal pull-through surgery; the main complications arising from surgery were sepsis, enterocolitis and obstruction of the intestines; abnormal bowel movements were detected years after the surgery; the mortality rate was 9.25%, the causes of death being post-operal enterocolitis and sepsis. CONCLUSION: although patients presented symptoms on birth, most were diagnosed at a later stage. Enterocolitis was the main cause of death. Abnormal bowel movements frequently occurred, requiring prolonged follow-up. Although rare, the association with MEN2A needs to be investigated owing to the highly aggressive nature of the disease. The clinical and genetic heterogeneity of HD necessitates the involvement of a multidisciplinary team.
Hirschsprung Disease; Clinical Aspects; Child Health
