Porfiria Aguda como etiología infrecuente de PRES
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| Titel: | Porfiria Aguda como etiología infrecuente de PRES |
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| Autoren: | Juan Ramon y Cajal Calvo, David Lopez Negredo, Javier Raymundez Valhondo, Laura Perez Abad |
| Quelle: | Rev Fac Cien Med Univ Nac Cordoba Revista de la Facultad de Ciencias Médicas de Córdoba, Vol 81, Iss 3 (2024) |
| Verlagsinformationen: | Universidad Nacional de Cordoba, 2024. |
| Publikationsjahr: | 2024 |
| Schlagwörter: | Medicine (General), R5-920, dolor abdominal, síndrome de leucoencefalopatía posterior, porfiria intermitente aguda, Medicine, Casos Clínicos, imagen por resonancia magnética, tomografía computarizada multidetector |
| Beschreibung: | Introduction: porphyria is a rare condition in which heme metabolism is altered. Clinical case: 29-year-old young man who goes to the emergency room with abdominal pain, vomiting and seizures. To determine the underlying cause, a brain computed tomography (CT) and magnetic resonance imaging (MRI) were performed, confirming the presence of involvement at the parieto-occipital level. Laboratory and urine tests are positive for porphyria, with improvement and resolution of the condition through targeted treatment. Discussion: Porphyrias are rare metabolic disorders with dominant autonomic inheritance that affect heme biosynthesis. In a minority of cases, an external factor can trigger a crisis producing abdominal and neurological symptoms. Imaging findings in acute porphyria are characteristic of PRES (posterior reversible encephalopathy syndrome), with cortico-subcortical involvement. Conclusion: Although it is an uncommon etiology in typical PRES imaging, acute porphyria attacks should be suspected in young patients with seizure attacks without hypertension and associated abdominal pain. |
| Publikationsart: | Article Other literature type |
| ISSN: | 1853-0605 0014-6722 |
| DOI: | 10.31053/1853.0605.v81.n3.44767 |
| Zugangs-URL: | https://doaj.org/article/54a20bdd3fce40a192c6a2a036aa8e6c |
| Rights: | CC BY NC URL: http://creativecommons.org/licenses/by-nc/4.0/Este es un artículo de acceso abierto distribuido bajo los términos de la Licencia de Atribución Creative Commons, que permite el uso, distribución y reproducción sin restricciones en cualquier medio, siempre que el trabajo original esté debidamente citado. |
| Dokumentencode: | edsair.doi.dedup.....8c4537aec3a304bffb462a5839c1523d |
| Datenbank: | OpenAIRE |
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Nájsť tento článok vo Web of Science | Abstract: | Introduction: porphyria is a rare condition in which heme metabolism is altered. Clinical case: 29-year-old young man who goes to the emergency room with abdominal pain, vomiting and seizures. To determine the underlying cause, a brain computed tomography (CT) and magnetic resonance imaging (MRI) were performed, confirming the presence of involvement at the parieto-occipital level. Laboratory and urine tests are positive for porphyria, with improvement and resolution of the condition through targeted treatment. Discussion: Porphyrias are rare metabolic disorders with dominant autonomic inheritance that affect heme biosynthesis. In a minority of cases, an external factor can trigger a crisis producing abdominal and neurological symptoms. Imaging findings in acute porphyria are characteristic of PRES (posterior reversible encephalopathy syndrome), with cortico-subcortical involvement. Conclusion: Although it is an uncommon etiology in typical PRES imaging, acute porphyria attacks should be suspected in young patients with seizure attacks without hypertension and associated abdominal pain. |
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| ISSN: | 18530605 00146722 |
| DOI: | 10.31053/1853.0605.v81.n3.44767 |