Clinicopathological features in 102 cases of Hirschsprung disease

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 pathological features of HD in Kuwait, which has an estimated consanguinity rate of 54%.We analyzed all rectal and colonic biopsies [n=268] for suspected HD identified from the records in the Pathology Department of Al-Sabah Hospital for the period between 1994 and 2004. One hundred and two patients [87 males and 15 females] had historically 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, necrotizing 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 colonic 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. 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

Idiopathic perforation of caecum in a neonate: case report

We report perforation of the caecum without a demonstrable cause in a three days old, healthy, male neonate. He presented with abdominal distention and constipation. Abdominal radiograph showed massive pneumoperitoneum. Caecal perforation was found on exploration. The perforation was closed and a protective proximal ileostomy was performed. The rest of the large intestine and small bowel appeared normal. Hirschsprung's disease was ruled out by multiple seromuscular biopsies. At a three monthly followup after closure of ileostomy, the baby showed normal weight gain without any symptoms