Diagnosis of Hirschsprung's disease: a prospective, comparative accuracy study of common tests.
OBJECTIVE
To compare the diagnostic accuracy of contrast enema (CE), anorectal manometry (ARM), and rectal suction biopsy (RSB) for the detection of Hirschsprung's disease (HD).


METHODS
Following a prospective protocol, infants suspected of HD underwent all 3 index tests. Children with positive results on 2 or more index tests or who continued to have severe bowel problems underwent a full thickness biopsy as reference standard. Clinical follow-up was the reference standard in all other children.


RESULTS
Between 2000 and 2003, 111 consecutive patients (67 boys; median age, 5.3 months) in whom HD was suspected were enrolled. HD was found in 28 patients. RSB had the highest sensitivity (93%) and specificity (100%) rates, but values were not significantly different from CE (sensitivity, 76%; specificity, 97%) or from ARM (sensitivity, 83%; specificity, 93%). Inconclusive test results occurred in 8 infants with CE, in 15 infants with ARM because of agitation, and in 2 infants with RSB.


CONCLUSIONS
RSB is the most accurate test for diagnosing HD, and it has the lowest rate of inconclusive test results.
De Lorijn
Fleur
F
Department of Pediatric Gastroenterology and Nutrition, Emma Children's hospital AMC/Academic Medical Center, Amsterdam, The Netherlands. f.deloijn@amc.uva.nl
Reitsma
Johannes B
JB
Voskuijl
Wieger P
WP
Aronson
Daniel C
DC
Ten Kate
Fiebo J
FJ
Smets
Anne M J B
AM
Taminiau
Jan A J M
JA
Benninga
Marc A
MA
D001003:Anal Canal / Q000473:pathology*; D001706:Biopsy / Q000379:methods; D002648:Child; D002675:Child, Preschool; D003287:Contrast Media; D003974:Diatrizoate Meglumine; D004733:Enema; D005260:Female; D005500:Follow-Up Studies; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008365:Manometry; D011237:Predictive Value of Tests; D011446:Prospective Studies; D012007:Rectum / Q000473:pathology*; D012680:Sensitivity and Specificity; D013396:Suction
D003287:Contrast Media; D003974:Diatrizoate Meglumine