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

• DOI: 10.7196/samj.7785
• Publication Date: 2014-03-31T07:20:47Z
• Authors: Christine Herculi...; Mark Sonderup; Alan Bryer; Anne Corrigall; Peter Meissner; Jeannine M Heckmann
• Keywords: Porphobilinogen; Porphobilinogen deaminase; Fasciculation

Acute intermittent porphyria, the most common porphyria affecting nervous system, typically presents with neurovisceral crises followed by a motor neuropathy. We describe 23-year-old black South African man presenting progressive stuttering, lower neuron syndrome developing over months. He had not experienced pain or neuropsychiatric symptoms. One year after symptom onset he was bed-bound flaccid quadriparesis. There marked amyotrophy, but without fasciculations. Sensation intact apart from hypo-aesthetic patch thigh. Electrophysiological investigations showed an active axonopathy. Urinary porphyrins, δ -aminolaevulinic acid and porphobilinogen were elevated. Mutation analysis revealed c445C>T (R149X) mutation in deaminase gene. The patient responded dramatically to haem arginate could walk assistance 2 weeks later. identified first molecularly confirmed acute African. clinical presentation mimicked syndrome.