title: Reevaluation of acetylcholinesterase staining for the diagnosis of Hirschsprung disease and allied disorders.
abstract: OBJECTIVE
  Acetylcholinesterase (AChE) staining has become the gold standard for definitively diagnosing Hirschsprung disease (HD), although some pitfalls have been reported. We reevaluated a large series at our institute in order to validate the accuracy of AChE staining for detecting HD.
  
  
  METHODS
  A retrospective study of the rectal mucosal specimens of all of the children with suspected HD during a 13-year period was performed. The specimens were stained according to the modified Karnovsky-Roots method for AChE staining. The final diagnosis, prognosis, and management after the histopathological diagnosis were analyzed with a questionnaire sent to the patient's original hospital.
  
  
  RESULTS
  Three hundred and fifty-eight specimens were collected. One hundred twenty-two (34%) specimens were diagnosed as HD, 198 (55%) as nonHD, 25 (7%) as "undetermined," and 13 (4%) as "inappropriate." The non-HD group contained 190 (96%) specimens with a normal appearance and 8 (4%) specimens with suspected intestinal neuronal dysplasia (IND). Three hundred and six of 358 questionnaires were returned. The final diagnosis showed that no specimens first diagnosed as HD were identified as non-HD and vice versa, for a sensitivity and specificity of 100%. Four cases were finally diagnosed as chronic idiopathic intestinal pseudo-obstruction (CIIP) in the non-HD group. All of the patients with HD underwent radical surgery. Most non-HD patients were managed conservatively, although some continued to have constipation.
  
  
  CONCLUSIONS
  AChE staining is an accurate tool for differentiating between HD and non-HD with high sensitivity and specificity. CIIP can be included in cases of non-HD; therefore, careful follow-up is mandatory.
authors.affiliation: Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Iskandar R
authors.initials: IR
authors.lastname: Budianto
authors.forename: Satoshi
authors.initials: S
authors.lastname: Obata
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Kinoshita
authors.forename: Koichiro
authors.initials: K
authors.lastname: Yoshimaru
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Yanagi
authors.forename: Junko
authors.initials: J
authors.lastname: Miyata
authors.forename: Kouji
authors.initials: K
authors.lastname: Nagata
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ieiri
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Taguchi
mesh_terms: D000110:Acetylcholinesterase / Q000032:analysis*; D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D003248:Constipation / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000150:complications / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D009412:Nerve Fibers / Q000737:chemistry*; D012007:Rectum / Q000294:innervation / Q000473:pathology*; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: D000110:Acetylcholinesterase