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

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.