Document Detail

Hereditary vacuolar internal anal sphincter myopathy causing proctalgia fugax and constipation: a new case contribution.
MedLine Citation:
PMID:  15716662     Owner:  NLM     Status:  MEDLINE    
Hereditary anal sphincter myopathy is rare. We present a family with one affected member with proctalgia fugax, constipation and internal anal sphincter hypertrophy. Ultrastructural findings show vacuolization of smooth muscle cells without the characteristic polyglucosan inclusion. Further relief of symptoms was obtained using an oral calcium antagonist. Based on clinical presentation, endosonography and morphological findings, we consider our case is a histological variant of the vacuolar myopathy originally described.
Fernando de la Portilla; Juan José Borrero; Enrique Rafel
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of gastroenterology & hepatology     Volume:  17     ISSN:  0954-691X     ISO Abbreviation:  Eur J Gastroenterol Hepatol     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-02-17     Completed Date:  2005-06-06     Revised Date:  2009-10-16    
Medline Journal Info:
Nlm Unique ID:  9000874     Medline TA:  Eur J Gastroenterol Hepatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  359-61     Citation Subset:  IM    
Coloproctology Unit, Department of General Surgery, Hospital Juan Ramón Jiménez, Huelva, Spain.
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MeSH Terms
Anus Diseases / complications,  genetics*,  pathology
Calcium Channel Blockers / therapeutic use
Constipation / etiology*,  pathology
Muscle, Smooth / pathology
Muscular Diseases / complications,  genetics*,  pathology
Nifedipine / therapeutic use
Pain / etiology,  pathology
Rectal Diseases / etiology,  pathology
Treatment Outcome
Vacuoles / pathology
Reg. No./Substance:
0/Calcium Channel Blockers; 21829-25-4/Nifedipine

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