Hidden Charcot-Marie-Tooth 1A as Revealed by Peripheral Nerve Imaging
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- Shibuya Kazumoto
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Yoshida Toshiki
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Misawa Sonoko
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Sekiguchi Yukari
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Beppu Minako
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Amino Hiroshi
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Suzuki Yo-ichi
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Suichi Tomoki
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Tsuneyama Atsuko
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Nakamura Keigo
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
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- Kuwabara Satoshi
- Department of Neurology, Graduate School of Medicine, Chiba University, Japan
Abstract
<p>Peripheral nerve imaging techniques have recently increasingly revealed their usefulness. We herein describe a man who had a subacute progression of symptom, diffuse and prominent proximal demyelination and conduction block, suggesting a diagnosis of inflammatory demyelinating polyneuropathy. Additional nerve imaging techniques revealed homogeneous and prominent nerve hypertrophy without proximal accentuation and the findings implied inherited polyneuropathies. Intravenous immunoglobulin was administered, and both the symptoms of weakness and findings of nerve conduction studies (NCS) improved. Subsequent genetic testing unveiled Charcot-Marie-Tooth 1A. To diagnose peripheral nerve disorders, a careful history, physical examination and NCS are essential diagnostic tools, but the findings of this case suggest the importance of nerve imaging techniques in clinical situations. </p>
Journal
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- Internal Medicine
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Internal Medicine 58 (21), 3157-3161, 2019-11-01
The Japanese Society of Internal Medicine
