Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report

Acute intermittent porphyria (AIP) is a rare hereditary metabolic disorder, manifesting in a series of neuropsychiatric symptoms and abdominal pain. Posterior reversible encephalopathy syndrome (PRES) is also an uncommon clinical syndrome characterized by localized cerebral edema in the posterior part of the brain, accompanied by abnormal signal changes in white matter areas. Typically, AIP lacks specific clinical symptoms and cranial imaging features, making the diagnosis difficult. In this case, a young male with AIP presented with intermittent abdominal pain prior to epilepsy. Therefore, the diagnosis of AIP should be considered when epilepsy is associated with PRES.

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Publication Details

Journal
Case Reports in Neurological Medicine
Published
2025-01-01
DOI
https://doi.org/10.1155/crnm/5596570
Primary Topic
Porphyrin Metabolism and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report

Wei Li, Zhiyun Lian, Jun Tang, Xiujuan Mi
Case Reports in Neurological Medicine
Porphyrin Metabolism and Disorders
article

Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report

Wei Li, Zhiyun Lian, Jun Tang, Xiujuan Mi
article en

Abstract

Acute intermittent porphyria (AIP) is a rare hereditary metabolic disorder, manifesting in a series of neuropsychiatric symptoms and abdominal pain. Posterior reversible encephalopathy syndrome (PRES) is also an uncommon clinical syndrome characterized by localized cerebral edema in the posterior part of the brain, accompanied by abnormal signal changes in white matter areas. Typically, AIP lacks specific clinical symptoms and cranial imaging features, making the diagnosis difficult. In this case, a young male with AIP presented with intermittent abdominal pain prior to epilepsy. Therefore, the diagnosis of AIP should be considered when epilepsy is associated with PRES.

Case Reports in Neurological MedicineVol. 2025(1)
First People's Hospital of Chongqing (CN)
Openalex Percentile: Top 73%
Porphyrin Metabolism and Disorders
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Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report — Wei Li, Zhiyun Lian, et al. · Case Reports in Neurological Medicine (2025) | TGRS Research Map | TGRS