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* Hirschsprung disease remains a challenging diagnosis for many pathologists. The disease is characterized by a lack of ganglion cells in the myenteric and submucosal plexus, associated with increased numbers of acetylcholinesterasepositive nerve fibers. Hypertrophic nerve fibers are present in most but not all patients. Total colonic aganglionosis (TCA) is an uncommon form of Hirschsprung disease with clinical, histologic, and genetic differences and is even more difficult to diagnose and manage. This case illustrates some of the difficulties frequently faced by the pathologists dealing with total colonic aganglionosis. Suction rectal biopsy specimens often lack significant nerve hypertrophy and positive acetylcholinesterase staining, which aid in the diagnosis. Pathologists have to depend mainly on the lack of ganglion cells in adequate submucosa to establish the diagnosis. Transition zone is often long in total colonic aganglionosis and interpretation of frozen sections can be difficult. The presence of several uniformly distributed clusters of mature ganglion cells and lack of nerve hypertrophy are required to avoid connections at the transition zone.
(Arch Pathol Lab Med. 2010;134:1467-1473)
REPORT OF A CASE
A 5-day-old full-term female neonate was brought to the emergency department with a complaint of emesis and absence of bowel movements. The patient was initially given bottle feedings but was unable to tolerate them and was switched to breast feedings. Her birth weight was 3.4 kg and development was appropriate for her age. We had additional medical history information that the father had Hirschsprung disease (HSCR) as a neonate. Barium enema showed a small-caliber descending left colon with a ''transition zone'' at the splenic flexure, with distended hepatic flexure and ascending colon. These findings were consistent with HSCR; however, they do not exclude functional immaturity. Rectal suction biopsy was performed.
MICROSCOPIC DESCRIPTION
Fifty serial sections were prepared from 2 fragments of rectal tissue and stained with hematoxylin-eosin (H&E). On microscopic examination, adequate amount of submucosa was present but no ganglion cells (GCs) were identified, and no significant nerve hypertrophy was present (Figure 1, a and b). Acetylcholinesterase (AChE) stain was performed on an additional frozen fragment but the results were inconclusive. Only few questionable nerve twigs were present in the muscularis mucosa and lamina propria (Figure 1c). Diagnosis of HSCR disease was made and the patient was taken to...