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Hirschsprung disease and associated malformations. Epidemiologic study and report of 80 cases

A. Charieg, T. Chouikh, F. Nouira, M. Ben Dhaou, S. Ghorbel, R. Khemakhem, S. Jlidi, S. Ben Khalifa, B. Chaouachi

Surgery Department B, Children Hospital, Tunis, Tunisia



Introduction: The Hirschsprung disease (HD) is isolated in at least 70% of the cases. Nevertheless, associated malformations including syndromic associations were reported. The aim of this epidemiologic study is to report the associated malformations in the Hirschsprung disease on a series of 80 cases.

Material and methods: It is a retrospective study about 80 cases of HD hospitalized from January 2000 to December 2008.

Results: The series comprises 20 girls and 60 boys with a sex ratio of 1/3. The average age at the time of the diagnosis was 14 month with a median age at 20 days. The proportion of the newborns is 56%. The circumstances of discovery were a neonatal occlusion in 51% of the cases, an intestinal obstructive syndrome in 12% of the cases, a chronic constipation in 32% of the cases and complications like enterocolitis in 5% of the cases. From the 80 cases of HD we noted 22 associated congenital malformations (27.5%) in 14 patients (17.5%): a 21 trisomy in 2 patients including one with cardiac malformation, anorectal malformation and neurological bladder, one Bardett-Biedl syndrome with pigmentary retinitis, anorectal malformation and psychomotor retardation, one case of colic atresia, one gastro-esophageal reflux and one hiatal hernia. We also noted endocrine anomalies like congenital adrenal hyperplasia and hypothyroidism. We also report a Recklinghausen neurofibromatosis with “café-au-lait” spots, umbilical hernia and inguinal hernia. There were isolated urogenital malformations: one bilateral testicular ectopia and one primitive megaureter. The ophthalmologic anomalies were one diplopia and one pigmentary retinitis. One girl has a skeletal malformation (left foot hypertrophy).

Conclusion: The association of the HD with certain congenital malformations is estimated at 21% in the literature and at 17.5% in our series. These malformations can influence or determine the prognosis in certain patients.


Key words: Hirschsprung, associated malformations.