title: Acute intermittent porphyria with transient cortical blindness.
abstract: Acute intermittent porphyria is a hereditary disorder characterized by deficient activity of the enzyme porphobilinogen deaminase. It manifests with occasional neurovisceral crises due to overproduction of porphyrin precursors. We report a 12 year old male child with acute intermittent porphyria, who presented with encephalopathy and transient blindness of cerebral origin.
authors.affiliation: Department of Pediatrics, Sher-I- Kashmir Institute of Medical Science, Soura, Srinagar, J and K, India.
authors.forename: Javeed Iqbal
authors.initials: JI
authors.lastname: Bhat
authors.forename: Umar Amin
authors.initials: UA
authors.lastname: Qureeshi
authors.forename: Mushtaq Ahmad
authors.initials: MA
authors.lastname: Bhat
mesh_terms: D019575:Blindness, Cortical / Q000209:etiology*; D002648:Child; D006801:Humans; D008297:Male; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000175:diagnosis