title: Acute intermittent porphyria with peripheral neuropathy complicated by small-fiber neuropathy.
abstract: 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.
authors.affiliation: Department of Neurology, Chang Gung Memorial Hospital, Kaohsiung Medical Center, Chang Gung University College of Medicine, Taiwan.
authors.forename: Ching-Hua
authors.initials: CH
authors.lastname: Hsieh
authors.forename: Hui-Hong
authors.initials: HH
authors.lastname: Tsai
authors.forename: Tsu-Hsiang
authors.initials: TH
authors.lastname: Lu
authors.forename: Yi-Chun
authors.initials: YC
authors.lastname: Chen
authors.forename: Min-Wei
authors.initials: MW
authors.lastname: Hsieh
authors.forename: Yao-Chung
authors.initials: YC
authors.lastname: Chuang
mesh_terms: 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
chemical_list: C482860:UCHL1 protein, human; D043222:Ubiquitin Thiolesterase