Karakaplan Mustafa, Ergen Emre, Görmeli Gökay, Korkmaz Mehmet Fatih, Elmalı Nurzat
J Am Podiatr Med Assoc. 2017 Jan;107(1):85-89. doi: 10.7547/15-085.
Cerebrotendinous xanthomatosis is a rare, autosomal recessive, lipid storage disease with accumulation of cholestanol in most tissues, particularly in the Achilles tendons. We described a 23-year-old female patient who had progressive painfull swelling of both Achilles tendons due to cerebrotendinous xanthomatosis. We performed surgery on both-side Achilles tendon tumors. Wide degenerative areas of the tendons were resected, and the flexor hallucis longus tendon was harvested and transferred to reconstruct motion function.
脑腱黄瘤病是一种罕见的常染色体隐性脂质贮积病,胆固醇在大多数组织中蓄积,尤其是跟腱。我们描述了一名23岁女性患者,因脑腱黄瘤病导致双侧跟腱进行性疼痛性肿胀。我们对双侧跟腱肿瘤进行了手术。切除了肌腱广泛的退变区域,并采集了拇长屈肌腱进行转移以重建运动功能。