Tibrewal Sapna, Duell P Barton, DeBarber Andrea E, Loh Allison R
Department of Ophthalmology, Casey Eye institute, Oregon Health and Science University, Portland.
Knight Cardiovascular Institute, Oregon Health and Science University, Portland.
J AAPOS. 2017 Dec;21(6):505-507. doi: 10.1016/j.jaapos.2017.07.211. Epub 2017 Oct 24.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by a broad spectrum of clinical manifestations, including bilateral juvenile cataracts. Untreated CTX leads to progressive permanent neurologic decline and early death. Although symptoms begin in early childhood, diagnosis and replacement therapy with chenodeoxycholic acid is often delayed until adulthood. Frequently bilateral juvenile cataracts present in early childhood which provides ophthalmologists an opportunity to aid in early diagnosis and initiate treatment. We report the case of a child presenting with juvenile bilateral cataracts leading to the diagnosis of CTX. The morphology of cataracts and the effect of systemic treatment on its progression are described.
脑腱黄瘤病（CTX）是一种罕见的常染色体隐性脂质贮积病，其临床表现多样，包括双侧青少年白内障。未经治疗的CTX会导致进行性永久性神经功能衰退和早亡。尽管症状始于儿童早期，但鹅去氧胆酸的诊断和替代治疗往往延迟至成年期。双侧青少年白内障常在儿童早期出现，这为眼科医生提供了协助早期诊断和启动治疗的机会。我们报告了一例因双侧青少年白内障而诊断为CTX的儿童病例。描述了白内障的形态以及全身治疗对其进展的影响。
