Acute Porphyria with Peripheral Neuropathy : a rare case.

We report the case of a young patient, admitted in our rehabilitation center, after she presented an acute and severe tetraparesis due to a peripheral neuropathy with respiratory impairment. The electrophysiological studies showed a severe axonal motor neuropathy. A first diagnosis of Guillain-Barré Syndrome (GBS) was evocated. During the first year of rehabilitation, she presented an acute abdominal pain followed by a quick neurological degradation requiring her transfer to Intensive Care Unit. Further biological and genetic analyzes have been made: a rare type of Acute Porphyria consecutive to a genetic syndrome with chromosome 17 duplication has been diagnosed.