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A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry

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Minerva Pediatrica 2011 December;63(6):449-57

language: English

Evaluation of the diagnostic enigma in Hirschsprung disease

Diniz G., Aktas S., Ortac R.

Pathology Laboratory of Dr. Behcet Uz Children’s Hospital, Izmir, Turkey


AIM: We aimed to investigate intraoperative diagnosis rate of aganglionosis with hematoxylin eosin (HE) staining, to review the current diagnostic procedures in Hirschsprung disease (HD), to inquire the validity of enzyme staining in diagnosis of HD and to evaluate the utility of ret oncoprotein (RET) antibody for detecting ganglion cells (GC) in paraffin sections.
METHODS: Two hundred and thirty three children who are suspected to have HD were included in this study. A total of 302 surgical procedures related to diagnosis and treatment of HD were performed. One to 19 samples (3.5±2.91) per each case were examined with intraoperative pathological consultation. Although establishing primary diagnoses of HD by frozen sections (FS) examination and performing a one-step approach for treatment have been aimed, consecutive surgical operations were required in 30 cases (12.9%). One hundred and sixty three cases (70%) were male. Seventy eight cases (33.5%) were in neonatal period (mean=13.5±9.7 days). Only 56 cases were older than 1 year. GC were absent in 137 of cases. Presences of GC with FS examination weren’t decided and prior colostomies were performed in 18 cases (7.7%).
RESULTS:There were no discrepancies between the FS diagnoses and final diagnoses of the cases except these children. Requisition of consecutive surgical procedures interestingly was lower in neonates than others (P=0.01). Because of long duration, technical difficulty and standardization problems; not only immune histochemical stains but also enzyme stains should not be prefer for demonstration of GC during surgery.
CONCLUSION: We suppose that if one-step approach is desired, the intraoperative evaluation of HE staining FS by experienced pathologists is still gold standard in the diagnosis of HD.

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