It is quite surprising that nearly every neurologist knows about porphyria and that it can present with psychosis and abdominal pain as well as neuropathy. The only problem is to do the right test to identify and do it quickly: morning urine sent for delta5-ALA, which probably is the offending agent in central and peripheral (including autonomic) neuropathy. We discuss a young female patient with a short psychotic episode after a presumed gastroenteritis and run through the core facts.
- Abdominal pain or back pain in at least 80% of the patients – both being caused by autonomic neuropathy
- Axonal predominantly motor neuropathy – one of the most important differentials for GBS, recognizable by neurophysiology
- Hyponatremia can occur
- All “neurological” porphyrias have delta5-ALA in the urine in the acute phase.
- Skin lesions occur in varietage porphyria and hereditary coproporphyria.
- Avoid drugs as listed on http://www.drugs-porphyria.com
Here is one good reference, taking only 4 pages.