n South African Medical Journal - Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man : forum - clinical practice
|Article Title||Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man : forum - clinical practice|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Medical Journal|
|Affiliations||1 University of Cape Town, 2 University of Cape Town, 3 University of Cape Town, 4 University of Cape Town, 5 University of Cape Town and 6 University of Cape Town|
|Publication Date||Apr 2014|
|Pages||283 - 285|
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.
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