title: Acute intermittent porphyria presenting with a subarachnoid haemorrhage.
abstract: A 47-year-old man presented with abdominal pain, neck stiffness, severe transient hypertension and unusually dark urine. Cerebrospinal fluid investigations and angiography confirmed the diagnosis of a subarachnoid haemorrhage. Porphyrin studies on the patient and his family demonstrated that the family has acute intermittent porphyria. This is the second case report of an acute hepatic porphyria presenting with a subarachnoid haemorrhage. Acute transient hypertension during the attack of porphyria caused the rupture of an intracranial arterial aneurysm.
authors.affiliation: Clinical Laboratories, University Hospital Aintree, Liverpool L9 7AL, UK. charles.vanheyningen@aintree.nhs.uk
authors.forename: Charles
authors.initials: C
authors.lastname: van Heyningen
authors.forename: David M
authors.initials: DM
authors.lastname: Simms
mesh_terms: D005260:Female; D005799:Genes, Dominant; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics; D006973:Hypertension / Q000150:complications; D002532:Intracranial Aneurysm / Q000151:congenital; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D013345:Subarachnoid Hemorrhage / Q000209:etiology*
chemical_list: D011163:Hydroxymethylbilane Synthase