Epilepsy and Brain Swelling Can Signal Acute Intermittent Porphyria
In rare cases, epilepsy and posterior reversible encephalopathy syndrome (PRES), a condition marked by brain swelling that leads to seizures, headaches, and confusion, may be the first signs of acute intermittent porphyria (AIP), according to a case report.
“This case highlights the heterogeneous [varied] neurological manifestations of AIP, especially the rare presentation of epilepsy as the initial symptom combined with PRES,” researchers wrote.
The report, Acute intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report, was published in the journal case Reports in Neurological Medicine.
AIP symptoms often appear suddenly
Porphyria encompasses a group of genetic disorders marked by a deficiency in one or more enzymes needed for the production of heme, the iron-containing compound essential for transporting oxygen in the body.
AIP is caused by mutations in the HMBS gene, leading to reduced activity of the enzyme porphobilinogen deaminase, which is responsible for the third step in the heme synthesis pathway. When this enzyme is deficient, intermediate compounds known as porphyrin precursors accumulate to harmful levels, particularly affecting the nervous system.
Symptoms of AIP often appear suddenly and may last for several days to weeks before gradually lessening. Attacks typically involve intense abdominal pain and might potentially be accompanied by gastrointestinal disturbances such as nausea, vomiting, constipation, or diarrhea. Other notable signs include dark or reddish urine and urinary difficulties during acute episodes.
Neurological symptoms may also occur, including nerve pain or weakness in the arms and legs, as well as seizures, which can manifest as sudden shaking, twitching, or brief loss of consciousness. Muscle weakness or wasting, especially in the shoulders and upper arms, can also develop over time. In rare cases, confusion, hallucinations, or other mental health changes may occur during severe attacks.
