Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report

Variegate porphyria (VP) is one of the groups of rare inherited disorders of hemoglobin synthesis called Porphyria. It has two distinct manifestations, that is, those of cutaneous and nervous system. Posterior reversible encephalopathy syndrome (PRES) is a rare complication of porphyria. It occurs due to vasogenic edema in white matter of predominantly parieto-occipital lobes, characterized by headache, visual disturbances, altered mental state, hypertension, and seizures. We report a child diagnosed with VP who presents with clinical signs and radiological manifestations suggestive of PRES. To our knowledge this has never been reported in a case of VP and only twice been reported in another type of porphyria. A 12-year-old pre-pubertal boy already diagnosed with VP presents with seizure, visual disturbance, altered mental status, headache, and hypertension. Initial brain magnetic resonance imaging (MRI) revealed bilateral increased signal intensity in parieto-occipital region. Neurological opinion suggested that the symptoms experienced by the patient seem to be a complication of porphyria. Treatment was to control hypertension and prevent use of any aggravating agents. Follow-up MRI after two weeks revealed interval reduction in disease process. Diagnosis of PRES was thus confirmed. PRES should be considered in patients presenting with symptoms typical of encephalitis/meningitis/acute disseminated encephalomyelitis in a patient suffering from porphyria. Early diagnosis is key to quick improvement and prevention of complications. Though rare in pre-pubertal patients, it should be kept as a possibility especially when patients present with hypertension. Care should be taken to not use any drugs that can trigger PRES.