Juan Ramon Y Cajal Calvo, David Lopez Negredo, Javier Raymundez Valhondo, Laura Perez Abad
{"title":"[急性卟啉症是 PRES 的罕见病因]","authors":"Juan Ramon Y Cajal Calvo, David Lopez Negredo, Javier Raymundez Valhondo, Laura Perez Abad","doi":"10.31053/1853.0605.v81.n3.44767","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>porphyria is a rare condition in which heme metabolism is altered.</p><p><strong>Clinical case: </strong>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.</p><p><strong>Discussion: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":38814,"journal":{"name":"Revista de la Facultad de Ciencias Medicas de Cordoba","volume":"81 3","pages":"598-607"},"PeriodicalIF":0.0000,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536817/pdf/","citationCount":"0","resultStr":"{\"title\":\"[Acute porphyria as a rare etiology of PRES]\",\"authors\":\"Juan Ramon Y Cajal Calvo, David Lopez Negredo, Javier Raymundez Valhondo, Laura Perez Abad\",\"doi\":\"10.31053/1853.0605.v81.n3.44767\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>porphyria is a rare condition in which heme metabolism is altered.</p><p><strong>Clinical case: </strong>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.</p><p><strong>Discussion: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":38814,\"journal\":{\"name\":\"Revista de la Facultad de Ciencias Medicas de Cordoba\",\"volume\":\"81 3\",\"pages\":\"598-607\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-09-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536817/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Revista de la Facultad de Ciencias Medicas de Cordoba\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31053/1853.0605.v81.n3.44767\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista de la Facultad de Ciencias Medicas de Cordoba","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31053/1853.0605.v81.n3.44767","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
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.
期刊介绍:
The Journal of the Faculty of Medical Sciences is a scientific publication of the Secretariat of Science and Technology of the Faculty of Medical Sciences of the National University of Cordoba. Its objective is to disseminate and promote research work related to Medical and Biological Sciences. It publishes scientific works of national and international professionals on different topics related to health sciences from the field of medicine, nursing, kinesiology, diagnostic imaging, phonoaudiology, nutrition, public health, chemical sciences, dentistry and related.