A case of atypical amyloid polyneuropathy with predominant upper-limb involvement with the diagnosis unexpectedly found at lung operation.
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.
Shirota
Yuichiro
Y
Department of Neurology, Graduate School of Medicine, the University of Tokyo.
Iwata
Atsushi
A
Ishiura
Hiroyuki
H
Hashimoto
Meiko
M
Goto
Jun
J
Shimizu
Jun
J
Hanajima
Ritsuko
R
Nakajima
Jun
J
Takazawa
Yutaka
Y
Tsuji
Shoji
S
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
D011228:Prealbumin