Small Bowel Perforation in Fabry's Disease
Authors: ANNA BRYAN
Journal: Annals of Internal Medicine (1977)

Letters1 March 1977Small Bowel Perforation in Fabry's DiseaseANNA BRYAN, M.D., R. F. KNAUFT, M.D., W. A. BURNS, M.D.ANNA BRYAN, M.D., R. F. KNAUFT, M.D., W. A. BURNS, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-86-3-315 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptFabry's disease is a sex-linked disorder of glycolipid metabolism biochemically characterized by a deficiency or lack of the enzyme ceramide galactaryl hydralase (1). It is clinically manifested by skin lesions, often with evidence of renal, pulmonary, central nervous system, cardiovascular, ocular, or gastrointestinal dysfunction (2-3). Gastrointestinal symptoms, especially intermittent nonbloody diarrhea, frequently accompanied by crampy abdominal pain, are often associated with loss of haustral markings as seen on barium enema examinations (4). A recent report by Rowe, Gilliam, and Warthin (5) emphasized that these findings may be more common than previously recognized. We report the first case, to our knowledge,...References1. BRADY R, GAL A, and BRADLEY R: Enzymatic defect in Fabry's disease. N Engl J Med 276:1163-1167, 1967 CrossrefMedlineGoogle Scholar2. BAGDADE J, PARKER F, and WAYS P: Fabry's disease. A correlative clinical, morphologic, and biochemical study. Lab Invest 18:681-688, 1968 MedlineGoogle Scholar3. WALLACE H: Anderson-Fabry disease. Br J Dermatol 88:1-23, 1973 CrossrefMedlineGoogle Scholar4. CAMPBELL A and HALFORD M: Syndrome of diarrhoea and peripheral nerve changes due to generalized vascular disease. Br Med J 2:1509-1510, 1964 CrossrefMedlineGoogle Scholar5. ROWE J, GILLIAM J, and WARTHIN T: Intestinal manifestations of Fabry's disease. Ann Intern Med 81:628-631, 1974 LinkGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: ANNA BRYAN, M.D.; R. F. KNAUFT, M.D.; W. A. BURNS, M.D.Affiliations: Departments of Medicine and Pathology Veterans Administration Hospital Washington, DC 20422 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byImaging of metabolic and overload disorders in tissues and organsNebkhas: An essay in aeolian biogeomorphologyGastrointestinal involvement in Fabry disease. So important, yet often neglectedGastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction SyndromeGastrointestinal and Hepatic Manifestations of Systemic DiseasesGastrointestinal Symptoms in 342 Patients With Fabry Disease: Prevalence and Response to Enzyme Replacement TherapyGastrointestinal symptoms in Fabry disease: everything is possible, including treatmentEffect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry diseaseAchalasia in an Adolescent With Fabry DiseaseEsophageal vascular ectasia associated with Fabry's diseaseSmall bowel ischaemia in Fabry's diseasePolyarteritis nodosa‐like necrotizing vasculitis in Fabry diseaseCase 25-1990Creatinine Clearance: Corrected versus UncorrectedJejunal Diverticulosis With Perforation as a Complication of Fabry's DiseaseFunktionelle und morphologische Veränderungen des Dünndarms bei systemischen und extraintestinalen ErkrankungenThe Nephrotoxicity of Aminoglycosides 1 March 1977Volume 86, Issue 3Page: 315-316KeywordsAbdominal painCentral nervous systemDiarrheaEnzyme metabolismEnzymesFabry diseaseLesions ePublished: 1 December 2008 Issue Published: 1 March 1977 PDF downloadLoading ...