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Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man

Christine Herculine Albertyn, Mark Sonderup, Alan Bryer, Anne Corrigall, Peter Meissner, Jeannine M Heckmann

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, 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. 


Authors' affiliations

Christine Herculine Albertyn, Division of Neurology, Department of Internal Medicine, Groote Schuur Hospital; University of Cape Town, South Africa

Mark Sonderup, Department of Medicine, Division of Hepatology and Lennox Eales Porphyria Laboratories, Groote Schuur Hospital; University of Cape Town, South Africa

Alan Bryer, Division of Neurology, Department of Medicine, Groote Schuur Hospital; University of Cape Town, South Africa

Anne Corrigall, Porphyria Laboratories, Department of Medicine, University of Cape Town, South Africa

Peter Meissner, Division of Medical Biochemistry, Department of Clinical Laboratory Sciences and Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, and Porphyria Laboratories, Department of Medicine, University of Cape Town, South Africa

Jeannine M Heckmann, Division of Neurology, Department of Medicine, Groote Schuur Hospital; University of Cape Town, South Africa

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Keywords

acute intermittent porphyria; muscular atrophy; R149X mutation

Cite this article

South African Medical Journal 2014;104(4):283-285. DOI:10.7196/SAMJ.7785

Article History

Date submitted: 2013-11-22
Date published: 2014-01-20

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