| Rectal biopsy in children with Down syndrome and chronic constipation: Hirschsprung disease vs. non-Hirschsprung disease. | |
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MedLine Citation:
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PMID: 21991983 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Abstract Hirschsprung disease (HD) is reported in patients with Down syndrome (DS) with a frequency between 2% and 10%. The incidence of HD is 2% in our community-based registry that contains > 700 patients with DS. We reviewed rectal biopsy findings in 32 of these patients who had suction rectal biopsy (SRB) performed between 1980 and 2009 to investigate the cause of chronic constipation. We confirmed that 15 patients had diagnostic histological and histochemical features of HD. More challenging were findings in 5/17 patients in whom ganglia co-existed with equivocal acetylcholinesterase reaction patterns and/or hypertrophic submucosal nerves. In this retrospective study, we were able to resolve most of these discrepant findings by demonstrating normal Calretinin positive nerve twigs in the lamina propria and muscularis mucosae, The clinical significance of these unexpected findings in SRB specimens that did not satisfy strict criteria for a tissue diagnosis of HD is unknown. We speculate that a minority of these patients have transition zone morphology or an incomplete/atypical form of HD. Further investigations may help resolve discrepancies that arise when SRB is used to investigate chronic constipation in DS. |
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Authors:
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Hong Yin; Todd Boyd; M Cristina Pacheco; David J Schonfeld; Kevin Emil Bove |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-12 |
Journal Detail:
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Title: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Volume: - ISSN: 1093-5266 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9809673 Medline TA: Pediatr Dev Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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a Cincinnati Children's Hospital Medical Center, Pathology and Laboratory Medicine. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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