Posterior reversible encephalopathy syndrome in acute intermittent porphyria.

BACKGROUND: Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and visual disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes. We report a child with acute intermittent porphyria who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome.

PATIENT: A 9-year-old girl underwent an appendectomy after developing abdominal pain. She subsequently developed bilateral visual disturbance, confusion, seizures, hypertension, tachycardia, nausea, vomiting, constipation, dark tea-colored urine, and recurrent abdominal pain.

RESULTS: Initial brain magnetic resonance imaging revealed hyperintense gyriform lesions on T2-weighted images and hypointense to isointense lesions on T1-weighted images in both parieto-occipital lobes with mild enhancement. The diagnosis of acute intermittent porphyria was confirmed by increased urinary excretion of porphyrin precursors. Her clinical signs gradually improved after intravenous high-dose glucose treatment and symptomatic therapies. A repeat magnetic resonance imaging confirmed complete resolution of the parieto-occipital lesions, suggesting with posterior reversible encephalopathy syndrome.

CONCLUSIONS: The association of abdominal pain, mental status changes, and autonomic dysfunction should arouse the suspicion of acute intermittent porphyria. Acute intermittent porphyria can be associated with posterior reversible encephalopathy syndrome.