Clinicopathological features in 102 cases of Hirschsprung disease

Background: Hirschsprung disease [HD] is a predominantly childhood disorder of intestinal motility with a multifactorial and polygenic etiology. The objective of this study was to document the clinical and pathologi- cal features of HD in Kuwait, which has an estimated consanguinity rate of 54%. Methods: We analyzed all rectal and colonic biopsies (n=268) for sus- pected HD identified from the records in the Pathology Department of Al-Sabah Hospital for the period between 1994 and 2004. results: One hundred and two patients (87 males and 15 females) had histologically confirmed HD. Fifty-eight (57%) were neonates ( 1 month of age), while 21% were more than 4 months old. The diagnosis was based on open biopsy in 11 cases and rectal biopsies in 91 cases. Nine patients with open biopsies presented as intestinal obstruction, necrotiz- ing enterocolitis, or perforation. The extent of the disease was unknown in 13 patients. There were 67 males and 3 females with short segment HD. Nine had long segment, two ultra-short segment and eight total co- lonic aganglionosis (TCA). Five TCA cases involved the small intestine. A skip area was observed in two cases. Six patients had other anomalies. A positive family history for HD was established in three patients. Two of these were male siblings from a consanguineous marriage and had Waardenburg syndrome. conclusion: This study has highlighted an exceptionally strong male predominance of short segment and a relatively high frequency (5.6%) of small intestinal involvement in HD in Kuwait. These data call for a more detailed epidemiological study with special emphasis on genetics.