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: 2.84). 10/2010; 134(10):1467-73. DOI: 10.1043/2010-0279-CR.1
Source: PubMed


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.

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    • "Ganglion cells can be immature and in low numbers, especially in premature newborns [3]. Endothelial cells can be mixed with fibroblasts and inflammatory cells in hematoxylene eosine sections [1]. To identify a ganglion cell can be a struggle and very stressful for a pathologist who has had little experience in this area and who is not specialized in the area of pediatric pathology. "
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    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.
    Full-text · Article · Nov 2014 · Pathology - Research and Practice
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    • "Long-term results are suboptimal, complications and sequelae are very common [5, 7–22]. A recent metanalysis did not demonstrate superior results for any type of operation for total colonic aganglionosis. "
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    ABSTRACT: Total colonic aganglionosis represents a significant challenge for pediatric surgeons. Long-term results are suboptimal and complications are very common. We analyzed our experience to formulate recommendations to achieve better results and avoid complications and sequelae. The medical records of patients with total colonic aganglionosis that were operated on by us primarily or secondarily were reviewed. We evaluated: number of operations performed, preventable complications, bowel control or presence of stomas, and clinical follow-up. Based on this experience we describe our current approach for this condition. IRB approval was obtained. 27 patients were identified (19 males, 8 females). 12 patients had the primary pullthrough performed by us and 15 were operated on elsewhere before coming to us for reoperation. The average number of operations per patient was 6.8 (1-40). We identified several preventable complications: ileostomy prolapse or stricture (21), severe diaper rash (10), obstructive symptoms following a pouch or patch-type of pullthrough (9), infection, abscess, and fistula after the pullthrough (5); wrong histologic diagnosis leading to colostomy opening in aganglionic bowel (4) with consequent pullthrough of aganglionic intestine in two of them; anastomotic stricture/acquired atresia (3); and destroyed anal canal and permanent fecal incontinence (2). 15 patients have bowel control; 11 have an ileostomy: temporary (7) and permanent (4); and one is less than 3 years of age. Length of follow-up ranged from 1 to 17 years. Based on this experience, our approach for this condition consists of: colectomy with straight ileoanal anastomosis and ileostomy at presentation, followed by ileostomy closure only when the child is toilet trained for urine and is willing to tolerate rectal irrigations. Total colonic aganglionosis remains a serious surgical challenge. Patients suffering from the condition, have multiple complications, sequelae, and often require reoperations. We found that it is possible to prevent many of these by properly fixing the stoma, avoiding pouch or patch procedures, delaying ileostomy closure, having pathology expertise, and with meticulous surgical technique starting the dissection/anastomosis well above the dentate line.
    Full-text · Article · Aug 2011 · Pediatric Surgery International
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    ABSTRACT: Excessively long segment of congenital hypoganglionosis is rare, and therapeutic strategies to treat this disorder are not well established. The purpose of this study is to describe the significance of management in the neonatal and early infancy period. Four patients (aged 1-4 years) with hypoganglionosis were selected for this study, of which 3 were treated at our hospital. In the initial treatment of 3 cases, an intraoperative pathological diagnosis was made on the basis of findings from simultaneous biopsies taken from the jejunum and sigmoid colon. Retrospective reviews of these patients were performed. Initial double-barrel jejunostomy at less than 50 cm from the ligament of Treitz allowed patients to start oral nutrition within a week following surgery. Subsequent refashioning of the initial jejunostomy to the Bishop-Koop type was performed at 3 to 6 months of age. Intravenous hyperalimentation was required to meet less than 50% of nutritional requirements, and patients were able to maintain their body weight within 1.5 SD of the normal mean body weight. Liver function test results were also within normal limits in the 3 patients treated at our hospital. Early diagnosis and treatment may help improve the management of patients in the early stages of hypoganglionosis.
    No preview · Article · Aug 2011 · Journal of Pediatric Surgery
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