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

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.

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Publication Details

Journal
Journal of the Pakistan Medical Association
Published
2024-10-16
DOI
https://doi.org/10.47391/jpma.10209
Primary Topic
Porphyrin Metabolism and Disorders
Type
article
Field-Weighted Citation Impact
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article

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

Nasir Ashraf, Abdul Nasır, Fatima Qayyum Abbasi, Tehreem Farah et al.
Journal of the Pakistan Medical Association
Porphyrin Metabolism and Disorders
article

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

Nasir Ashraf, Abdul Nasır, Fatima Qayyum Abbasi, Tehreem Farah, Hania Batool
article en

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.

Journal of the Pakistan Medical AssociationVol. 74(11)
Ghazi University (PK), Pakistan Institute of Medical Sciences (PK)
Good health and well-being
Openalex Percentile: Top 83%
Porphyrin Metabolism and Disorders
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