{"title":"Worsening abdominal pain leading to false laparotomy: A case of acute intermittent porphyria.","authors":"Tehreem Farah, Hania Batool, Nasir Ashraf, Fatima Qayyum Abbasi, Aisha Nasir","doi":"10.47391/JPMA.10209","DOIUrl":null,"url":null,"abstract":"<p><p>Acute intermittent porphyria (AIP), one of the most severe types of acute hepatic porphyria, is an autosomal dominant inherited disorder of heme biosynthesis. We present a case of a 16-year-old girl who presented with severe abdominal pain, subjected to a laparotomy and later developed seizures and other neurological manifestations. Initial investigations showed hyponatraemia. Magnetic Resonance Imaging of brain showed cerebritis. She underwent several investigations including an ultrasound of abdomen, a computed tomography scan of abdomen and pelvis, cerebrospinal fluid routine examination and culture, and autoimmune investigation which were found to be normal. Later urine porphobilinogen levels were found to be raised. The diagnosis was made based on investigation and clinical symptoms. AIP should be suspected when a patient presents with chronic abdominal pain and neurological symptoms.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"74 11","pages":"2003-2005"},"PeriodicalIF":0.8000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Pakistan Medical Association","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.47391/JPMA.10209","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Acute intermittent porphyria (AIP), one of the most severe types of acute hepatic porphyria, is an autosomal dominant inherited disorder of heme biosynthesis. We present a case of a 16-year-old girl who presented with severe abdominal pain, subjected to a laparotomy and later developed seizures and other neurological manifestations. Initial investigations showed hyponatraemia. Magnetic Resonance Imaging of brain showed cerebritis. She underwent several investigations including an ultrasound of abdomen, a computed tomography scan of abdomen and pelvis, cerebrospinal fluid routine examination and culture, and autoimmune investigation which were found to be normal. Later urine porphobilinogen levels were found to be raised. The diagnosis was made based on investigation and clinical symptoms. AIP should be suspected when a patient presents with chronic abdominal pain and neurological symptoms.
期刊介绍:
Primarily being a medical journal, JPMA publishes scholarly research focusing on the various fields in the areas of health and medical education. It publishes original research describing recent advances in health particularly clinical studies, clinical trials, assessments of pathogens of diagnostic importance, medical genetics and epidemiological studies. Review articles highlighting importance of various issues in the domain of public health, drug research and medical education are also accepted. As a leading journal of South Asia, JPMA remains cognizant of the recent advances in the rapidly growing fields of biomedical sciences, it invites and encourages scholars to write short reviews and invited editorials on the emerging issues. We particularly aim to promote health standards of developing countries by encouraging manuscript submissions on issues affecting the public health and health delivery services.