SciELO - Scientific Electronic Library Online

 
vol.104 issue4The safety of osteoporosis medication author indexsubject indexarticles search
Home Pagealphabetic serial listing  

SAMJ: South African Medical Journal

On-line version ISSN 2078-5135

Abstract

ALBERTYN, C H et al. Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man. SAMJ, S. Afr. med. j. [online]. 2014, vol.104, n.4, pp. 283-284. ISSN 2078-5135.

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, δ-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.

        · text in English     · English ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License