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Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

X-linked intestinal pseudo-obstruction, a rare disorder caused by mutations in FLNA, the gene encoding the cytoskeletal protein filamin A, has been regarded as a hereditary enteric neuropathy largely on the basis of sparse and incomplete pathologic studies. Diffuse abnormal layering of small intesti... Full description

Journal Title: The American Journal of Surgical Pathology 2010, Vol.34(10), pp.1528-1543
Main Author: Kapur, P., Raj
Other Authors: Robertson, P., Stephen , Hannibal, C., Mark , Finn, S., Laura , Morgan, J., Timothy , Van Kogelenberg, J., Margriet , Loren, J., David
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ID: ISSN: 0147-5185 ; DOI: 10.1097/PAS.0b013e3181f0ae47
Link: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&NEWS=n&CSC=Y&PAGE=fulltext&D=ovft&AN=00000478-201010000-00017
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title: Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction
format: Article
creator:
  • Kapur, P., Raj
  • Robertson, P., Stephen
  • Hannibal, C., Mark
  • Finn, S., Laura
  • Morgan, J., Timothy
  • Van Kogelenberg, J., Margriet
  • Loren, J., David
subjects:
  • Mutation
  • Contractile Proteins -- Genetics
  • Genetic Diseases, X-Linked -- Genetics
  • Intestinal Pseudo-Obstruction -- Genetics
  • Intestine, Small -- Abnormalities
  • Microfilament Proteins -- Genetics
  • Muscle, Smooth -- Abnormalities
ispartof: The American Journal of Surgical Pathology, 2010, Vol.34(10), pp.1528-1543
description: X-linked intestinal pseudo-obstruction, a rare disorder caused by mutations in FLNA, the gene encoding the cytoskeletal protein filamin A, has been regarded as a hereditary enteric neuropathy largely on the basis of sparse and incomplete pathologic studies. Diffuse abnormal layering of small intestinal smooth muscle (DAL) is a rare malformation, which has only been described in 4 patients (all male, 3 in the same family) with intestinal pseudo-obstruction. We report DAL in 5 male patients (2 families) with intestinal pseudo-obstruction and mutations in FLNA. Light microscopic, ultrastructural, and immunohistochemical studies showed abnormal lamination of the small intestinal muscularis propria with associated absent or severely reduced FLNA immunoreactivity. Intestinal samples from the oldest patient in the series, a teenager, showed multinucleate myocytes in small and large intestine, along the submucosal surface of the muscularis propria. As neither DAL nor the pattern of myocyte multinucleation observed in our patients have been described outside the context of X-linked intestinal pseudo-obstruction, these histopathologic features may be specific for this hereditary disorder and suggest an underlying myopathic basis for dysmotility in affected patients.
language:
source:
identifier: ISSN: 0147-5185 ; DOI: 10.1097/PAS.0b013e3181f0ae47
fulltext: fulltext
issn:
  • 0147-5185
  • 01475185
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titleDiffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction
creatorKapur, P., Raj ; Robertson, P., Stephen ; Hannibal, C., Mark ; Finn, S., Laura ; Morgan, J., Timothy ; Van Kogelenberg, J., Margriet ; Loren, J., David
ispartofThe American Journal of Surgical Pathology, 2010, Vol.34(10), pp.1528-1543
identifierISSN: 0147-5185 ; DOI: 10.1097/PAS.0b013e3181f0ae47
descriptionX-linked intestinal pseudo-obstruction, a rare disorder caused by mutations in FLNA, the gene encoding the cytoskeletal protein filamin A, has been regarded as a hereditary enteric neuropathy largely on the basis of sparse and incomplete pathologic studies. Diffuse abnormal layering of small intestinal smooth muscle (DAL) is a rare malformation, which has only been described in 4 patients (all male, 3 in the same family) with intestinal pseudo-obstruction. We report DAL in 5 male patients (2 families) with intestinal pseudo-obstruction and mutations in FLNA. Light microscopic, ultrastructural, and immunohistochemical studies showed abnormal lamination of the small intestinal muscularis propria with associated absent or severely reduced FLNA immunoreactivity. Intestinal samples from the oldest patient in the series, a teenager, showed multinucleate myocytes in small and large intestine, along the submucosal surface of the muscularis propria. As neither DAL nor the pattern of myocyte multinucleation observed in our patients have been described outside the context of X-linked intestinal pseudo-obstruction, these histopathologic features may be specific for this hereditary disorder and suggest an underlying myopathic basis for dysmotility in affected patients.
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subjectMutation ; Contractile Proteins -- Genetics ; Genetic Diseases, X-Linked -- Genetics ; Intestinal Pseudo-Obstruction -- Genetics ; Intestine, Small -- Abnormalities ; Microfilament Proteins -- Genetics ; Muscle, Smooth -- Abnormalities;
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titleDiffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction
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abstractX-linked intestinal pseudo-obstruction, a rare disorder caused by mutations in FLNA, the gene encoding the cytoskeletal protein filamin A, has been regarded as a hereditary enteric neuropathy largely on the basis of sparse and incomplete pathologic studies. Diffuse abnormal layering of small intestinal smooth muscle (DAL) is a rare malformation, which has only been described in 4 patients (all male, 3 in the same family) with intestinal pseudo-obstruction. We report DAL in 5 male patients (2 families) with intestinal pseudo-obstruction and mutations in FLNA. Light microscopic, ultrastructural, and immunohistochemical studies showed abnormal lamination of the small intestinal muscularis propria with associated absent or severely reduced FLNA immunoreactivity. Intestinal samples from the oldest patient in the series, a teenager, showed multinucleate myocytes in small and large intestine, along the submucosal surface of the muscularis propria. As neither DAL nor the pattern of myocyte multinucleation observed in our patients have been described outside the context of X-linked intestinal pseudo-obstruction, these histopathologic features may be specific for this hereditary disorder and suggest an underlying myopathic basis for dysmotility in affected patients.
pub© 2010 Lippincott Williams & Wilkins, Inc.
doi10.1097/PAS.0b013e3181f0ae47
eissn15320979
date2010-10