Acute porphyria: An unusual case of quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures | [Journal of Pakistan Medical Association • 2023]

Author(s):

1. Murtaza Ali Gowa: Department of Pediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan

2. Syed Muhammad Aqeel Abidi: Department of Pediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan

3. Momina Khan: Department of Pediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan

4. Ghazala Jamal: Aga Khan University, Karachi, Pakistan.

5. Hira Nawaz: Department of Pediatric Intensive Care Unit, National Institute of Child Health, Karachi, Pakistan

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. This case highlights the variable presentation of porphyria and emphasises the importance of appropriate and timely diagnosis and management in these patients.

Page(s): 2089-2092

DOI: 10.47391/JPMA.7390

Published: Journal: Journal of Pakistan Medical Association, Volume: 73, Issue: 10, Year: 2023

Keywords:

Acute intermittent porphyria , Erythropoietic porphyria , Porphyria , Hepatoerythropoietic porphyria , Hepatic porphyria , Porphyria cutanea tarda

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