Acute porphyria: an unusual case of quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures Authors Murtaza Ali Gowa Department of Pediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan Syed Muhammad Aqeel Abidi 4th Year MBBS Student, Aga Khan University, Karachi, Pakistan Momina Khan Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan Ghazala Jamal Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan Hira Nawaz Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.7390 Keywords: Porphyria, Acute intermittent porphyria, Erythropoietic porphyria, Hepatic porphyria, Hepatoerythropoietic porphyria, Porphyria cutanea tarda Abstract Porphyria refers to a rare group of genetically inherited or acquired disorders that arise due to reduced metabolic activity of any of the enzymes in the haem biosynthetic pathway. Defect in any enzyme causes the presentation of symptoms of porphyria. The epidemiology of Acute Intermittent Porphyria (AIP) is complicated because of its rarity and delay in diagnosis. We present the case of a seven-year-old girl who presented with multisystem involvement; her symptoms were quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures. These symptoms together were not explained by the differentials taken into account. She presented before puberty with no family history of such conditions, while being born of consanguineous marriage. Her symptoms along with urinary porphobilinogen positivity test helped to reach the diagnosis of AIP in the absence of cutaneous manifestations. ---Continue Author Biographies Murtaza Ali Gowa, Department of Pediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan FCPS, Post fellowship in Paediatric Critical Care MedicineAssistant professor, National Institute of Child Health (NICH), Karachi, PakistanSection head Department of Paediatric Intensive Care Unit (PICU), National Institute of Child Health (NICH), Karachi, PakistanMurtazagova@gmail.com03343016343 Syed Muhammad Aqeel Abidi, 4th Year MBBS Student, Aga Khan University, Karachi, Pakistan Elective intern, Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, PakistanMedicine and Surgery, Aga Khan University Hospital Karachi, Karachi, Pakistan Momina Khan, Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan MBBS, Paediatric Resident, Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan Ghazala Jamal, Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan MBBS, Chief Paediatric Resident, Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan Hira Nawaz, Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan MBBS, Paediatric Resident, Department of Paediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan Downloads Full Text Article Published 2023-09-13 How to Cite Gowa, M. A., Abidi, S. M. A., Khan, M., Jamal, G., & Nawaz, H. (2023). Acute porphyria: an unusual case of quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures. Journal of the Pakistan Medical Association, 73(10), 2089–2092. https://doi.org/10.47391/JPMA.7390 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 73 No. 10 (2023): OCTOBER Section CASE REPORT License Copyright (c) 2023 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.