| 20028211 |
Szigeti R, Chumpitazi BP, Finegold MJ, Ranganathan S, Craigen WJ, Carter BA, Tatevian N: Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. Am J Physiol Heart Circ Physiol. 2009 May;296(5):H1625-32. Epub 2009 Feb 27.
Abstract Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS; OMIM%249210) is a rare and severe form of congenital intestinal and urinary dysfunction and malformation. Histologic studies suggest that the predominant intestinal manifestation is smooth muscle myopathy. Molecular observations have linked the disease to the neuronal nicotinic acetylcholine receptor (hAChR), namely the absence of functional a3 subunit of the hAChR in patients with MMIHS. We describe a MMIHS case in association with a de novo deletion of the proximal, long arm of chromosome 15 (15q11.2). Histologic evaluation revealed an appropriate light microscopic appearance of both the circular and longitudinal layers of the small bowel muscularis propria. Immunohistochemical staining for smoot muscle actin (SMA), however, was selectively absent in the circular layer, demonstrating isolated absence in a unique and previously undescribed pattern. These observations raise the possibility that the proximal long arm of chromosome 15 (15q11) may be of clinical significance in MMIHS. |
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