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KMID : 1140920170410020313
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Annals of Rehabilitation Medicine
2017 Volume.41 No. 2 p.313 ~ p.317
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Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report
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Yoon Jung-Yoon
Kim Min-Wook
Do Hyun-Jung
Jang Dae-Hyun
Lee Hee-Won
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Abstract
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Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with cerebrotendinous xanthomatosis. The patient presented with bilateral Achilles tendon enlargement and foot hypesthesia. Sonographic examination revealed hypoechoic, swollen peripheral nerves with enlarged bilateral Achilles tendons. Since the ultrasonographic findings revealed peripheral involvement, the diagnosis of cerebrotendinous xanthomatosis was established after laboratory and genetic studies along with clinical findings.
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KEYWORD
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Ultrasonography, Polyneuropathies, Cerebrotendinous xanthomatosis
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