Acute porphyria as a rare etiology of PRES
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) we...
Guardado en:
| Autores principales: | , , , |
|---|---|
| Formato: | Artículo revista |
| Lenguaje: | Español |
| Publicado: |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2024
|
| Materias: | |
| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/44767 |
| Aporte de: |
| id |
I10-R327-article-44767 |
|---|---|
| record_format |
ojs |
| institution |
Universidad Nacional de Córdoba |
| institution_str |
I-10 |
| repository_str |
R-327 |
| container_title_str |
Revista de la Facultad de Ciencias Médicas de Córdoba |
| language |
Español |
| format |
Artículo revista |
| topic |
porphyria aacute intermittent abdominal pain posterior leukoencephalopathy syndrome magnetic resonance imaging multidetector computed tomography porfiria intermitente aguda dolor abdominal síndrome de leucoencefalopatía posterior imagen por resonancia magnética tomografía computarizada multidetector tomografia computodarizada multidetectores porfiria aguda intermitente dor abdominal síndrome da leucoencefalopatia posterior imageamento por ressonancia magnetica |
| spellingShingle |
porphyria aacute intermittent abdominal pain posterior leukoencephalopathy syndrome magnetic resonance imaging multidetector computed tomography porfiria intermitente aguda dolor abdominal síndrome de leucoencefalopatía posterior imagen por resonancia magnética tomografía computarizada multidetector tomografia computodarizada multidetectores porfiria aguda intermitente dor abdominal síndrome da leucoencefalopatia posterior imageamento por ressonancia magnetica Ramon y Cajal Calvo, Juan Lopez Negredo, David Raymundez Valhondo, Javier Perez Abad, Laura Acute porphyria as a rare etiology of PRES |
| topic_facet |
porphyria aacute intermittent abdominal pain posterior leukoencephalopathy syndrome magnetic resonance imaging multidetector computed tomography porfiria intermitente aguda dolor abdominal síndrome de leucoencefalopatía posterior imagen por resonancia magnética tomografía computarizada multidetector tomografia computodarizada multidetectores porfiria aguda intermitente dor abdominal síndrome da leucoencefalopatia posterior imageamento por ressonancia magnetica |
| author |
Ramon y Cajal Calvo, Juan Lopez Negredo, David Raymundez Valhondo, Javier Perez Abad, Laura |
| author_facet |
Ramon y Cajal Calvo, Juan Lopez Negredo, David Raymundez Valhondo, Javier Perez Abad, Laura |
| author_sort |
Ramon y Cajal Calvo, Juan |
| title |
Acute porphyria as a rare etiology of PRES |
| title_short |
Acute porphyria as a rare etiology of PRES |
| title_full |
Acute porphyria as a rare etiology of PRES |
| title_fullStr |
Acute porphyria as a rare etiology of PRES |
| title_full_unstemmed |
Acute porphyria as a rare etiology of PRES |
| title_sort |
acute porphyria as a rare etiology of pres |
| description |
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. |
| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2024 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/44767 |
| work_keys_str_mv |
AT ramonycajalcalvojuan acuteporphyriaasarareetiologyofpres AT lopeznegredodavid acuteporphyriaasarareetiologyofpres AT raymundezvalhondojavier acuteporphyriaasarareetiologyofpres AT perezabadlaura acuteporphyriaasarareetiologyofpres AT ramonycajalcalvojuan porfiriaagudacomoetiologiainfrecuentedepres AT lopeznegredodavid porfiriaagudacomoetiologiainfrecuentedepres AT raymundezvalhondojavier porfiriaagudacomoetiologiainfrecuentedepres AT perezabadlaura porfiriaagudacomoetiologiainfrecuentedepres AT ramonycajalcalvojuan porfiriaagudacomoetiologiararadepres AT lopeznegredodavid porfiriaagudacomoetiologiararadepres AT raymundezvalhondojavier porfiriaagudacomoetiologiararadepres AT perezabadlaura porfiriaagudacomoetiologiararadepres |
| first_indexed |
2025-02-05T22:05:36Z |
| last_indexed |
2025-02-05T22:05:36Z |
| _version_ |
1823256752334831616 |
| spelling |
I10-R327-article-447672024-12-05T12:49:49Z Acute porphyria as a rare etiology of PRES Porfiria Aguda como etiología infrecuente de PRES Porfiria aguda como etiologia rara de PRES Ramon y Cajal Calvo, Juan Lopez Negredo, David Raymundez Valhondo, Javier Perez Abad, Laura porphyria aacute intermittent abdominal pain posterior leukoencephalopathy syndrome magnetic resonance imaging multidetector computed tomography porfiria intermitente aguda dolor abdominal síndrome de leucoencefalopatía posterior imagen por resonancia magnética tomografía computarizada multidetector tomografia computodarizada multidetectores porfiria aguda intermitente dor abdominal síndrome da leucoencefalopatia posterior imageamento por ressonancia magnetica 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. Introducción: la porfiria, es una afección poco común en la que se encuentra alterado el metabolismo del grupo hemo. Caso clínico: joven de 29 años que acude a urgencias por dolor abdominal, vómitos y convulsiones. Para determinar la causa subyacente, se llevó a cabo una tomografía computarizada (TC) y resonancia magnética (RM) cerebral, que confirma la presencia de afectación a nivel parietooccipital. Las pruebas de laboratorio y de orina resultan positivas para porfiria, con mejoría y resolución del cuadro mediante tratamiento dirigido .Discusión: Las porfirias son trastornos metabólicos poco comunes con herencia autonómica dominante que afectan a la biosíntesis del grupo hemo. En una minoría de los casos, un factor externo puede desencadenar una crisis produciendo sintomatología abdominal y neurológica. Los hallazgos en imagen en cuadros de porfiria aguda son característicos de PRES (síndrome de encefalopatía posterior reversible), con afectación córtico-subcortical. Conclusión: Aunque se trata de una etiología infrecuente en imagen característica de PRES, las crisis de porfiria aguda deben sospecharse en pacientes jóvenes con crisis convulsivas sin hipertensión y cuadro de dolor abdominal asociado. Introdução: a porfiria é uma condição rara em que o metabolismo do heme está alterado. Caso clínico: Jovem de 29 anos que recorre ao pronto-socorro com dores abdominais, vômitos e convulsões. Para determinar a causa subjacente, foram realizadas tomografia computadorizada (TC) e ressonância magnética (RM) do cérebro, confirmando a presença de envolvimento no nível parieto-occipital. Os exames laboratoriais e de urina são positivos para porfiria, com melhora e resolução do quadro por meio de tratamento direcionado. Discussão: As porfirias são distúrbios metabólicos raros com herança autonômica dominante que afetam a biossíntese do heme. Numa minoria de casos, um factor externo pode desencadear uma crise que produz sintomas abdominais e neurológicos. Os achados de imagem na porfiria aguda são característicos da PRES (síndrome da encefalopatia posterior reversível), com envolvimento córtico-subcortical. Conclusão: Embora seja uma etiologia incomum na imagem típica da PRES, as crises agudas de porfiria devem ser suspeitadas em pacientes jovens com crises convulsivas sem hipertensão e dor abdominal associada. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2024-09-27 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf text/html https://revistas.unc.edu.ar/index.php/med/article/view/44767 10.31053/1853.0605.v81.n3.44767 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 81 No. 3 (2024); 598-607 Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 81 Núm. 3 (2024); 598-607 Revista da Faculdade de Ciências Médicas de Córdoba; v. 81 n. 3 (2024); 598-607 1853-0605 0014-6722 10.31053/1853.0605.v81.n3 spa https://revistas.unc.edu.ar/index.php/med/article/view/44767/46625 https://revistas.unc.edu.ar/index.php/med/article/view/44767/46589 Derechos de autor 2024 Universidad Nacional de Córdoba https://creativecommons.org/licenses/by-nc/4.0 |