title: Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man.
abstract: Acute intermittent porphyria, the most common porphyria affecting the nervous system, typically presents with neurovisceral crises followed by a motor neuropathy. We describe a 23-year-old black South African man presenting with a progressive stuttering, lower motor neuron syndrome developing over months. He had not experienced pain or neuropsychiatric symptoms. One year after symptom onset he was bed-bound with a flaccid quadriparesis. There was marked amyotrophy, but without fasciculations. Sensation was intact apart from a hypo-aesthetic patch over the thigh. Electrophysiological investigations showed an active motor axonopathy. Urinary porphyrins, delta-aminolaevulinic acid and porphobilinogen were elevated. Mutation analysis revealed the c445C>T (R149X) mutation in the porphobilinogen deaminase gene. The patient responded dramatically to haem arginate and could walk with assistance 2 weeks later. We identified the first molecularly confirmed acute intermittent porphyria in a black South African. The clinical presentation mimicked a progressive lower motor neuron syndrome.
authors.forename: C H
authors.initials: CH
authors.lastname: Albertyn
authors.forename: M
authors.initials: M
authors.lastname: Sonderup
authors.forename: A
authors.initials: A
authors.lastname: Bryer
authors.forename: A
authors.initials: A
authors.lastname: Corrigall
authors.forename: P
authors.initials: P
authors.lastname: Meissner
authors.forename: J M
authors.initials: JM
authors.lastname: Heckmann
mesh_terms: D001120:Arginine / Q000627:therapeutic use; D006418:Heme / Q000627:therapeutic use; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000209:etiology*; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000628:therapy; D055815:Young Adult
chemical_list: D006418:Heme; D001120:Arginine; D011163:Hydroxymethylbilane Synthase; C048849:heme arginate