Teen with AIP develops seizures, rare brain condition in case report
Boy with porphyria diagnosed after abdominal pain, PRES, study says
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A 16-year-old boy with acute intermittent porphyria (AIP), who first had abdominal pain and later developed seizures and was found to have a rare brain condition involving swelling, gradually recovered with a high-carbohydrate diet, anti-seizure medications, and by avoiding known triggers, according to a report from India.
“Raising clinical awareness of such atypical presentations is crucial to ensuring accurate diagnosis and effective management,” researchers wrote in “Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome: a case report,” published in the Journal of Medical Case Reports.
AIP causes buildup of toxic substances in the body
Porphyria is a group of genetic disorders in which the body cannot properly make heme, a component of hemoglobin, the protein that carries oxygen in red blood cells. As a result, harmful substances called heme precursors can build up and cause symptoms. Acute attacks of AIP are usually treated with hemin infusions to reduce production of these substances. A high-carbohydrate diet may also help control symptoms.
AIP often causes abdominal pain, nausea, vomiting, and constipation. One rare complication is posterior reversible encephalopathy syndrome (PRES), a condition involving brain swelling that can lead to seizures and changes in mental state. While abdominal pain is most common, “seizures may occasionally be the presenting feature,” the researchers wrote.
The researchers described the case of an adolescent boy who had two months of repeated abdominal pain. The pain was crampy, came and went, and was mostly around the belly button. He also had nausea, vomiting, and constipation, but no weight loss or blood in his stool. He had already undergone several tests, including endoscopy, but the results were normal.
Two days before going to the hospital, he had three tonic–clonic seizures. In this type of seizure, the body first becomes stiff, then jerks rhythmically. After each seizure, he was confused and very sleepy. At admission, his blood pressure and heart rate were high. Blood tests showed hyponatremia (low sodium) and elevated liver enzymes, a sign of liver stress.
A key clue came from his urine, which turned dark after being exposed to sunlight. This can happen when certain heme-related substances build up and change after light exposure. Further testing confirmed high levels of porphobilinogen, a substance that accumulates in AIP, confirming the diagnosis. No genetic testing was performed due to a “resource limitation,” the researchers wrote.
Brain scan reveals rare complication linked to AIP
A magnetic resonance imaging (MRI) scan showed signs of PRES, with swelling in multiple areas of the brain. PRES is called “reversible” because the changes can improve with proper treatment. During his hospital stay, he also developed tingling in all four limbs. A nerve conduction study showed motor axonal neuropathy, meaning damage to the nerves that control muscle movement.
Treatment focused on reducing the buildup of harmful heme-related substances. Since Panhematin (hematin for injection) was not available, the boy was given high amounts of dextrose (a sugar) through intravenous (into-the-vein) fluids and a high-carbohydrate diet. This approach helps reduce the activity of an enzyme in the liver, lowering the production of toxic heme precursors.
His low sodium levels were carefully corrected with hypertonic fluids. For seizures, he was given medications including lorazepam, levetiracetam, and lacosamide. Medications that could worsen AIP were avoided, and fasting was prevented because it can trigger attacks. The boy improved steadily. His abdominal pain eased, seizures stopped, and a follow-up MRI showed that the brain changes had partially reversed.
“This case highlights the importance of considering AIP in young patients presenting with gastrointestinal and neurological symptoms. PRES as a manifestation of AIP is rare but should be recognized promptly, as early diagnosis and conservative management can lead to a favorable outcome,” the researchers concluded. The boy was discharged and remained symptom-free at follow-up visits.
