Article

Total colonic aganglionosis: case report, practical diagnostic approach and pitfalls.

Department of Pathology, University of Michigan, Ann Arbor, MI 48109, USA.
Archives of pathology & laboratory medicine (Impact Factor: 2.88). 10/2010; 134(10):1467-73. DOI: 10.1043/2010-0279-CR.1
Source: PubMed

ABSTRACT 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 acetylcholinesterase-positive 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.

0 Bookmarks
 · 
84 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: The diagnosis of Hirschsprung's disease (HD) remains challenging. The identification of ganglion cells is difficult and acetycholine esterase (AChE) staining can be subject to a great variability, particularly in the neonatal period (< 8 weeks). Nerve trunks greater than 40 A mu m are considered to be predictive for HD. The aim of this study was to evaluate the usefulness of measuring nerve trunk size in the newborn with HD. Out of 292 biopsies 69 could be reanalyzed by three independent researchers. 40 A mu m was used as cutoff point for nerve trunk size. They were subdivided into three groups: (a) diagnosis of HD certain at the first biopsy, (b) no HD and (c) diagnosis of HD remains doubtful and re-biopsy taken. In 87 % of group A nerve trunk size was a parts per thousand yen40 A mu m (SD 13.8). In 84 % of group B trunk size was < 40 A mu m (SD 16.2). In group C only 60 % of the patients showed a positive correlation between final diagnosis and nerve trunk size. Using 40 A mu m as the cutoff point gave 13 % false-negative and 16 % false-positive cases. Measurement of the nerve trunk in the neonatal period does not seem to be a reliable method for detecting HD.
    Pediatric Surgery International 07/2014; 30(8). DOI:10.1007/s00383-014-3541-7 · 1.06 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Total colonic aganglionosis is a relatively uncommon form of Hirschsprung's disease (HSCR). It occurs in approximately 2-13 % of HSCR cases and involves the entire colon which is aganglionic but may extend proximally into varying lengths of small bowel. As a result, it should be separated into Total colonic aganglionosis (TCA) [defined as aganglionosis extending from the anus to at least the ileocaecal valve but no more than 50 cm small bowel proximal to the ileocaecal valve] and total colonic and small bowel aganglionosis (TCSA) which may involve very long segments of small bowel aganglionosis. Clinically, TCA appears to represent a different spectrum of disease in terms of presentation and difficulties which may be experienced in diagnosis suggesting a different pathophysiology from the more common forms of HSCR. It is therefore not yet clear whether TCA merely represents a long form of HSCR or a different expression of the disease. A number of differences exist between TCA and other forms of HSCR which require explanation if its ubiquitous clinical features are to be understood. In addition to the usual explanations for the aganglionosis of HSCR, there is some evidence suggesting that in place of being purely congenital, it may represent certain different pathophysiologic mechanisms, some of which may continue to be active after birth. This study reviews what is known about the clinical, radiological and histopathologic differences between TCA and the more frequently encountered recto-sigmoid (or short-segment; S-HSCR) and correlates them with what is currently known about the genetic and molecular biologic background to find possible pathogenetic mechanisms.
    Pediatric Surgery International 10/2014; 31(1). DOI:10.1007/s00383-014-3634-3 · 1.06 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: In this study we aimed to evaluate the usability of calretinin staining in the diagnosis and exclusion of HD in 36 rectal biopsies. Through immunohistochemical examination, in of a total of 21 pediatric patients in whom ganglion cells were detected in first rectal biopsies and in re-biopsies, ganglion cells were seen through nuclear and cytoplasmic staining. In the lamina propria and superficial submucosa, staining of nerve fibers was detected in a granular pattern in varying intensities. Out of a total of 5 biopsies (including one re-biopsy) of non-HD patients, where ganglion cells couldn’t be seen, the nerve fibers were all stained. On the other hand, in 10 HD patients, diagnosed by a colon pull through operation, calretinin staining wasn’t detected in any area of the rectal biopsies except for the mast cells. We conclude that calretinin immunostaining for the diagnosis of HD is an easy and reliable method for use in daily practice.
    Pathology - Research and Practice 11/2014; 211(1). DOI:10.1016/j.prp.2014.08.012 · 1.56 Impact Factor