Worsening abdominal pain leading to false laparotomy: A case of acute intermittent porphyria.

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  • Additional Information
    • Source:
      Publisher: Pakistan Medical Association Country of Publication: Pakistan NLM ID: 7501162 Publication Model: Print Cited Medium: Internet ISSN: 0030-9982 (Print) Linking ISSN: 00309982 NLM ISO Abbreviation: J Pak Med Assoc Subsets: MEDLINE
    • Publication Information:
      Publication: Karachi : Pakistan Medical Association
      Original Publication: Karachi.
    • Subject Terms:
      Porphyria, Acute Intermittent*/diagnosis ; Porphyria, Acute Intermittent*/complications ; Abdominal Pain*/etiology ; Laparotomy*; Humans ; Female ; Adolescent ; Porphobilinogen/urine ; Tomography, X-Ray Computed ; Hyponatremia/etiology ; Hyponatremia/diagnosis
    • 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.
    • Contributed Indexing:
      Keywords: Acute Intermittent Porphyria, false laparotomy, appendicitis, acute abdomen, hyponatremia, tonic-clonic seizures.
    • Accession Number:
      74KHC72QXK (Porphobilinogen)
    • Publication Date:
      Date Created: 20241116 Date Completed: 20241116 Latest Revision: 20241116
    • Publication Date:
      20241118
    • Accession Number:
      10.47391/JPMA.10209
    • Accession Number:
      39548623