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

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概要

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• 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.

• 社団法人 日本内科学会の論文

著者

• Hanajima Ritsuko

  Department of Neurology, Graduate School of Medicine, the University of Tokyo

関連論文

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

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