title: Juvenile acute intermittent porphyria with hypercholesterolemia and epilepsy: a case report and review of the literature.
abstract: A case of acute intermittent porphyria in a 10-year-old boy with seizures and hypercholesterolemia is presented. The problems of management when seizures and porphyria coincide and discussion of hypercholesterolemia are included. A comprehensive review of the world literature reveals that prepubertal patients with acute intermittent porphyria are predominantly male and show an increased incidence of seizures when compared to older age groups. The principal clinical features in all age groups include abdominal pain, vomiting, fever, and tachycardia in addition to mental changes, limb paresis, and hyporeflexia.
mesh_terms: D002648:Child; D004827:Epilepsy / Q000150:complications*; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications*; D008297:Male; D011164:Porphyrias / Q000150:complications* / Q000453:epidemiology