While the absence of calretinin-immunoreactive mucosal innervation is taken as an indicator of Hirschsprung disease, its presence does not necessarily exclude the disease.
Lawrence, Kansas (PRWEB) February 27, 2014
Pediatric and Developmental Pathology – Clinicians are still seeking the most reliable method for evaluation of Hirschsprung disease. One useful indicator is the absence of calretinin-immunoreactive mucosal innervation, part of the process of establishing nerve cells in the colon. However, this method can also pose the risk of a misleading diagnosis, particularly in the very short-segment Hirschsprung disease variant (VS-HD).
While the absence of calretinin-immunoreactive mucosal innervation is taken as an indicator of Hirschsprung disease, its presence does not necessarily exclude the disease. These mucosal nerves can extend 1-2 cm into the affected bowel, potentially contributing to an erroneous estimation of the length of an aganlgionic segment, especially in VS-HD.
The journal Pediatric and Developmental Pathology presents a retrospective analysis of 18 surgical resections from infants less than 14 months old. Nine had short-segment Hirschsprung disease, and nine had VS-HD. Analysis was performed using three techniques: hematoxylin and cosin staining, Hu C/D neural markers, and calretinin immunohistochemistry.
In Hirschsprung disease, ganglion cells, a type of nerve cell, are absent in a distal segment of colon. This is a congenital disorder that most often occurs in infants. Newborns may fail to pass merconium in the first 24 hours after delivery and show symptoms such as severe constipation, abdominal distention, and bilious vomiting. Hirschsprung disease can be treated surgically.
Diagnosing Hirschsprung disease is a complex process. Testing for calretinin-immunoreactive mucosal innervation has begun to replace other methods in laboratories because it requires a less specialized methodology. However, the biopsies of four out of nine of the patients in this study of VS-HD showed the presence of calretinin-immunoreactive mucosal innervation in the most distal portion of the normoganglionic segment, justs proximal to the aganglionic area.
VS-HD remains a challenge to diagnose. All nine cases in this study were ultimately diagnosed by evaluating multiple biopsies and more than 100 sections per biopsy.
Full text of “Calretinin-Immunoreactive Mucosal Innervation in Very Short-Segment Hirschsprung’s Disease: A Potentially Misleading Observation,” Pediatric and Developmental Pathology, Vol. 17, No. 1, 2014, is now available.
About Pediatric and Developmental Pathology
Pediatric and Developmental Pathology is the premier journal dealing with the pathology of disease from conception through adolescence. It covers the spectrum of disorders developing in-utero (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. For more information about the journal or society, please visit: http://www.pedpath.org