Acute intermittent porphyria with peripheral neuropathy complicated by small-fiber neuropathy.
We describe a 60-year-old male patient with acute intermittent porphyria (AIP) who presented with initial abdominal pain and subsequent quadriplegia and respiratory failure. Small fiber neuropathy was demonstrated by measuring intra-epidermal nerve fiber density (IENFD) using protein gene product 9.5 (PGP 9.5) immunostaining on three consecutive skin punch biopsies of the distal lower limb. The biopsy findings demonstrated some correlation with progression of the patient's clinical condition. Neuropathy in AIP can have a small-fiber component rather than being solely a large-fiber neuropathy.
Hsieh
Ching-Hua
CH
Department of Neurology, Chang Gung Memorial Hospital, Kaohsiung Medical Center, Chang Gung University College of Medicine, Taiwan.
Tsai
Hui-Hong
HH
Lu
Tsu-Hsiang
TH
Chen
Yi-Chun
YC
Hsieh
Min-Wei
MW
Chuang
Yao-Chung
YC
D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000473:pathology; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D011782:Quadriplegia / Q000209:etiology; D012131:Respiratory Insufficiency / Q000209:etiology; D012867:Skin / Q000294:innervation* / Q000473:pathology*; D043222:Ubiquitin Thiolesterase / Q000378:metabolism
C482860:UCHL1 protein, human; D043222:Ubiquitin Thiolesterase