Imerslund-Gräsbeck Syndrome: Clinical Case
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| Natura: | Artículo científico |
| Lingua: | en |
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Asociación Colombiana de Gastroenterologia
2023
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| _version_ | 1876457119118524416 |
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| author | Ledmar Jovanny Vargas-Rodríguez |
| author_facet | Ledmar Jovanny Vargas-Rodríguez |
| contents | Imerslund-Gräsbeck Syndrome: Clinical Case Ledmar Jovanny Vargas-Rodríguez Edwar J. Rozo-Ortiz Camila Andrea Acosta-P. Javier O. Barón Mariana Siachoque-Morantes Medicina Imerslund proteinuria Gräsbeck syndrome vitamin B cobalamin recessive megaloblastic anemia Introduction: Imerslund-Gräsbeck syndrome (IGS) is a rare congenital disorder characterized by decreased vitamin B12, megaloblastic anemia, and proteinuria. Clinical case: A 58-year-old woman with four episodes of generalized tonic movements whose paraclinical findings showed cyanocobalamin deficiency. The presence of gait disturbances and constitutional syndrome was reported upon questioning, which required further investigation. The extension tests confirmed type 1 IGS, so it was decided to continue the cyanocobalamin management and nutrition evaluation, with which an adequate evolution was achieved. The patient was eventually discharged. Conclusion: This pathology is low prevalence and mainly affects the first decade of life. It prefers the female sex and is characterized by a decrease in vitamin B12, which can predispose to other disorders such as ataxia and growth retardation. 2023 otro 0120-9957 https://www.redalyc.org/articulo.oa?id=337782275013 https://www.redalyc.org/journal/3377/337782275013/ https://www.redalyc.org/journal/3377/337782275013/html/ https://www.redalyc.org/journal/3377/337782275013/337782275013.epub https://www.redalyc.org/journal/3377/337782275013/movil 10.22516/25007440.933 en http://www.redalyc.org/revista.oa?id=3377 Revista Colombiana de Gastroenterología application/pdf Asociación Colombiana de Gastroenterologia Revista Colombiana de Gastroenterología (Colombia) Num.3 Vol.38 |
| format | Artículo científico |
| id | redalyc_337782275013 |
| institution | Redalyc |
| language | en |
| publishDate | 2023 |
| publisher | Asociación Colombiana de Gastroenterologia |
| spellingShingle | Imerslund-Gräsbeck Syndrome: Clinical Case Ledmar Jovanny Vargas-Rodríguez Medicina Imerslund proteinuria Gräsbeck syndrome vitamin B cobalamin recessive megaloblastic anemia Imerslund-Gräsbeck Syndrome: Clinical Case Ledmar Jovanny Vargas-Rodríguez Edwar J. Rozo-Ortiz Camila Andrea Acosta-P. Javier O. Barón Mariana Siachoque-Morantes Medicina Imerslund proteinuria Gräsbeck syndrome vitamin B cobalamin recessive megaloblastic anemia Introduction: Imerslund-Gräsbeck syndrome (IGS) is a rare congenital disorder characterized by decreased vitamin B12, megaloblastic anemia, and proteinuria. Clinical case: A 58-year-old woman with four episodes of generalized tonic movements whose paraclinical findings showed cyanocobalamin deficiency. The presence of gait disturbances and constitutional syndrome was reported upon questioning, which required further investigation. The extension tests confirmed type 1 IGS, so it was decided to continue the cyanocobalamin management and nutrition evaluation, with which an adequate evolution was achieved. The patient was eventually discharged. Conclusion: This pathology is low prevalence and mainly affects the first decade of life. It prefers the female sex and is characterized by a decrease in vitamin B12, which can predispose to other disorders such as ataxia and growth retardation. 2023 otro 0120-9957 https://www.redalyc.org/articulo.oa?id=337782275013 https://www.redalyc.org/journal/3377/337782275013/ https://www.redalyc.org/journal/3377/337782275013/html/ https://www.redalyc.org/journal/3377/337782275013/337782275013.epub https://www.redalyc.org/journal/3377/337782275013/movil 10.22516/25007440.933 en http://www.redalyc.org/revista.oa?id=3377 Revista Colombiana de Gastroenterología application/pdf Asociación Colombiana de Gastroenterologia Revista Colombiana de Gastroenterología (Colombia) Num.3 Vol.38 |
| title | Imerslund-Gräsbeck Syndrome: Clinical Case |
| topic | Medicina Imerslund proteinuria Gräsbeck syndrome vitamin B cobalamin recessive megaloblastic anemia |
| url | https://www.redalyc.org/articulo.oa?id=337782275013 https://www.redalyc.org/journal/3377/337782275013/ https://www.redalyc.org/journal/3377/337782275013/html/ https://www.redalyc.org/journal/3377/337782275013/337782275013.epub https://www.redalyc.org/journal/3377/337782275013/movil |