title: A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation.
abstract: We present a patient of familial amyloid polyneuropathy (FAP) with predominant upper-limb involvement, the pattern of which resembled a mononeuropathy multiplex pattern. Sural nerve biopsy failed to diagnose the disorder, but lung partial resection performed later for other diagnostic purposes suggested FAP. A rare mutation in the transthyretin gene (S50R) was subsequently confirmed. Diagnostic challenges of FAP with atypical clinical presentations, including difficulties in pathological diagnosis, are discussed with a review of the literature.
authors.affiliation: Department of Neurology, Graduate School of Medicine, the University of Tokyo.
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Shirota
authors.forename: Atsushi
authors.initials: A
authors.lastname: Iwata
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ishiura
authors.forename: Meiko
authors.initials: M
authors.lastname: Hashimoto
authors.forename: Jun
authors.initials: J
authors.lastname: Goto
authors.forename: Jun
authors.initials: J
authors.lastname: Shimizu
authors.forename: Ritsuko
authors.initials: R
authors.lastname: Hanajima
authors.forename: Jun
authors.initials: J
authors.lastname: Nakajima
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Takazawa
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
mesh_terms: D017772:Amyloid Neuropathies / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D001132:Arm; D006801:Humans; D008168:Lung / Q000473:pathology* / Q000601:surgery*; D008297:Male; D008875:Middle Aged; D011228:Prealbumin / Q000235:genetics; D013497:Sural Nerve / Q000473:pathology
chemical_list: D011228:Prealbumin