Sensorimotor axonal polyneuropathy without hepatic failure in erythropoietic protoporphyria.
The erythropoietic porphyrias are primarily manifested by skin sensitivity. They are, unlike many other forms of porphyria, usually not associated with neurologic manifestations. Only a few cases have been reported of neuropathy in patients with erythropoietic porphyrias, all characterized by an acute motor and proximally accentuated neuropathy occurring in the setting of hepatic failure. In this report, we present a patient without hepatic failure who presented with a sensorimotor axonal polyneuropathy before being diagnosed with erythropoietic porphyrias. The presented case expands the forms of neurologic complications that can be seen in this specific form of porphyria.
Hengstman
Gerald J D
GJ
Department of Neurology, Catharina Hospital, Eindhoven, The Netherlands. g.hengstman@neuro.umcn.nl
de Laat
Karlijn F
KF
Jacobs
Bram
B
van Engelen
Baziel G M
BG
D002349:Carpal Tunnel Syndrome / Q000150:complications; D005260:Female; D006801:Humans; D017093:Liver Failure / Q000209:etiology; D008875:Middle Aged; D011115:Polyneuropathies / Q000209:etiology* / Q000503:physiopathology; D046351:Protoporphyria, Erythropoietic / Q000150:complications* / Q000503:physiopathology