Hidden Charcot-Marie-Tooth 1A as Revealed by Peripheral Nerve Imaging

被引：4

作者：

Shibuya, Kazumoto ^{[1
]}

Yoshida, Toshiki ^{[1
]}

Misawa, Sonoko ^{[1
]}

Sekiguchi, Yukari ^{[1
]}

Beppu, Minako ^{[1
]}

Amino, Hiroshi ^{[1
]}

Suzuki, Yo-ichi ^{[1
]}

Suichi, Tomoki ^{[1
]}

Tsuneyama, Atsuko ^{[1
]}

Nakamura, Keigo ^{[1
]}

Kuwabara, Satoshi ^{[1
]}

机构：

[1] Chiba Univ, Grad Sch Med, Dept Neurol, Chiba, Japan

来源：

INTERNAL MEDICINE | 2019年 / 58卷 / 21期

关键词：

Charcot-Marie-Tooth; 1A; chronic inflammatory demyelinating polyneuropathy; ultrasonography; magnetic resonance neurography; nerve enlargement; cross-sectional areas; ULTRASOUND; DISEASE; HEREDITARY; NEUROPATHIES; ENLARGEMENT; DISTINCTION; PROFILES; INDEX;

D O I：

10.2169/internalmedicine.3040-19

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：3157 / 3161

页数：5

共 16 条

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