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Acute Intermittent Porphyria

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Acute Intermittent Porphyria – Free Register to Access Experts & Abstracts

Martin Jude – One of the best experts on this subject based on the ideXlab platform.

Grace Swart – One of the best experts on this subject based on the ideXlab platform.

  • Acute Intermittent Porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain.
    Practical neurology, 2020
    Co-Authors: Grace Swart, Su San Lim, Martin Jude
    Abstract:

    Acute Intermittent Porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We describe a patient with Acute Intermittent Porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain. Acute Intermittent Porphyria should be considered as a possible cause of PRES, especially in those with unexplained abdominal pain, since delays in its diagnosis can result in permanent complications.

Manfred O. Doss – One of the best experts on this subject based on the ideXlab platform.

Franciszek Kokot – One of the best experts on this subject based on the ideXlab platform.

Su San Lim – One of the best experts on this subject based on the ideXlab platform.

  • Acute Intermittent Porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain.
    Practical neurology, 2020
    Co-Authors: Grace Swart, Su San Lim, Martin Jude
    Abstract:

    Acute Intermittent Porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We describe a patient with Acute Intermittent Porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain. Acute Intermittent Porphyria should be considered as a possible cause of PRES, especially in those with unexplained abdominal pain, since delays in its diagnosis can result in permanent complications.