A case report of acute intermittent porphyria presenting with reversible cerebral vasoconstriction syndrome

Acute intermittent porphyria (AIP), an autosomal dominant genetic disorder, is primarily characterized by neuropsychiatric abnormalities and intermittent abdominal pain; however, it is extremely rare for AIP to present with reversible cerebral vasoconstriction syndrome (RCVS).

Herein, we report a case of AIP presenting with RCVS in a patient admitted to our hospital.

We present a case of a 16-year-old female patient with clinical manifestations including abdominal pain, seizures, headache, and peripheral nerve lesions. Laboratory examination revealed small-cell hypochromic anemia, hyponatremia, hypochloremia, and a positive result of the urine porphobilinogen sun exposure test. The peripheral nerve injury was detected via electromyography. A left occipital epileptic discharge was observed on an electroencephalography. Brain magnetic resonance imaging (MRI) revealed abnormal signals in the bilateral temporal, parietal, and occipital lobes, and stenosis in multiple intracranial vasculatures. The patient was found to carry a mutation site in the hydroxymethylbilane synthase (HMBS) gene, and her father was heterozygous.

After treatment with high glucose, heme arginine, antiepileptic therapy, correction of electrolyte disorders, and nutritional support, the patient's symptoms were improved considerably.

Repeat brain MRI showed that the lesion disappeared and the intracranial vasculature returned to normal. The electromyography reexamination results also demonstrated that the peripheral nerve injury was relieved.

RCVS may occur in AIP patients, which is featured with abdominal pain, neuropsychiatric symptoms, and stenosis in multiple intracranial vasculatures. Urine porphobilinogen sun exposure test, brain MRI, and genetic examination can aid in a definitive diagnosis. A high glucose diet, heme arginine, and symptomatic treatment are effective in treating AIP presenting with RCVS.