A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation

Yuichiro Shirota; Atsushi Iwata; Hiroyuki Ishiura; Meiko Hashimoto; Jun Goto; Jun Shimizu; Ritsuko Hanajima; Jun Nakajima; Yutaka Takazawa; Shoji Tsuji

doi:10.2169/internalmedicine.49.3663

CASE REPORTS

A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation

Yuichiro Shirota, Atsushi Iwata, Hiroyuki Ishiura, Meiko Hashimoto, Jun Goto, Jun Shimizu, Ritsuko Hanajima, Jun Nakajima, Yutaka Takazawa, Shoji Tsuji

Author information

Yuichiro Shirota
Department of Neurology, Graduate School of Medicine, the University of Tokyo
Atsushi Iwata
Department of Neurology, Graduate School of Medicine, the University of Tokyo
Department of Molecular Neuroscience on Neurodegeneration, the University of Tokyo
Hiroyuki Ishiura
Department of Neurology, Graduate School of Medicine, the University of Tokyo
Meiko Hashimoto
Department of Neurology, Graduate School of Medicine, the University of Tokyo
Jun Goto
Department of Neurology, Graduate School of Medicine, the University of Tokyo
Jun Shimizu
Department of Neurology, Graduate School of Medicine, the University of Tokyo
Ritsuko Hanajima
Department of Neurology, Graduate School of Medicine, the University of Tokyo
Jun Nakajima
Department of Cardiothoracic Surgery, Graduate School of Medicine, the University of Tokyo
Yutaka Takazawa
Department of Pathology, Graduate School of Medicine, the University of Tokyo
Shoji Tsuji
Department of Neurology, Graduate School of Medicine, the University of Tokyo

Keywords: familial amyloid polyneuropathy, transthyretin, mononeuropathy multiplex, nerve biopsy, lung partial resection

JOURNAL OPEN ACCESS

2010 Volume 49 Issue 15 Pages 1627-1631

DOI https://doi.org/10.2169/internalmedicine.49.3663

Details

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.

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