Clinicopathological features in 102 cases of Hirschsprung disease

Abstract

BACKGROUNDHirschsprung 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%.METHODSWe 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.RESULTSOne 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, 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.CONCLUSIONThis 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.

Hirschsprung’s Disease: A Regional Experience

“…In a study by Ziad et al , the frequency of delayed passage of meconium and constipation was by far the most common mode of presentation and accounted for 82% of presentations. Abdominal distension came a distant second, which was present in only 8.8% of cases 25 . In our study, delayed passage of meconium was present in 6 (43%) of patients, whereas all patients had abdominal distension and 71% had vomiting.…”

Epidemiology of Hirschsprung's Disease in Taiwanese Children: A 13-year Nationwide Population-based Study

“…7,8,12e14 Twenty-eight percent of the HD patients were operated after the age of 1 year, which was higher than in previous studies. 15,16 This could be due to milder symptoms of these patients. However, this reminds us that HD should be considered in patients who present with symptoms of chronic constipation from birth.…”

Hirschsprung’s disease in children: a five year experience at a University teaching hospital in northwestern Tanzania

“…The follow up period ranged from 3 to 24 months with a median of 8 months (+IQR of 6 to 10 months). Using classification suggested by Nielson and Madsen [ 23 ], out of 82 patients who were discharged well, 68 (82.9%) had good results, 10 (12.2%) had satisfactory results and 4 (4.9%) had poor results. The results of pull through procedures among 82 survivors are shown in Table 3 .…”

“…The results of the definitive pull through procedures were graded as good, satisfactory or poor according to the classification suggested by Nielson and Madsen [ 23 ], as follows:-…”