Page 2Biopsies should be evaluated by an experienced consultant histopathologist, seeking external consultation if necessary • The presence of any number of ganglion cells on hematoxylin and eosin (H&E) staining excludes HSCR. • If ganglion cells are not seen, additional histologic evaluation should be considered before setting a diagnosis of HSCR. • Calretinin and/or peripherin should be used to look for ganglion cells, particularly in premature infants where these are small and not well visualised on H&E. • In HSCR, acetylcholinesterase activity is increased, and calretinin immunohistochemistry is negative.(Within Europe, external consultation can be requested from an ERNICA centre. A Clinical Patient Management System e-platform is under development) |