Öncel Acır Nurşen, Taskiran Kandeger Burcu
Department of Ophthalmology, Konya City Hospital, Konya, Türkiye.
Ophthalmic Genet. 2023 Aug;44(4):361-365. doi: 10.1080/13816810.2023.2197492. Epub 2023 Apr 5.
Cerebrotendinous xanthomatosis is characterized by excessive accumulation of cholestanol and cholesterol in multiple tissues including the brain, tendons, and the crystalline lens. Since juvenile cataract is the most common and early pathognomonic feature of this disease, it is critical to analyze some factors such as family history, systemic findings, and cataract morphology in children with cataracts. This study aims to report the early diagnosis of cerebrotendinous xanthomatosis in four siblings presenting with unique juvenile cataracts from a family with consanguineous marriage.
This is a retrospective noncomparative case series. Four symptomatic siblings and their asymptomatic parents were examined. Detailed eye examination, medical history analysis, evaluation of systemic findings, biochemical tests, and mutation analysis were performed.
While one sister presented with bilateral fleck-like opacities and posterior subcapsular cataract, two twin sisters had anterior star-shaped sutural cataract and posterior subcapsular cataract besides bilateral fleck-like opacities. The 20-year-old brother who had previously died in a traffic accident had bilateral juvenile cataract of unknown morphology. When asked specifically, none of the cases described a history of childhood diarrhea. Two sisters and one brother had neurological findings such as trouble walking and slowed speech. No significant ocular or systemic finding was found in both asymptomatic parents. Homozygous c.1263 + 1 G>A (intron 7) mutation was detected in the CYP27A1 gene in all symptomatic cases.
In the absence of chronic diarrhea, the presence of juvenile cataract (especially bilateral fleck-like opacities), neurological symptoms in the family history, and consanguinity of the parents might be considerably helpful for the early diagnosis of cerebrotendinous xanthomatosis.
脑腱黄瘤病的特征是脑、肌腱和晶状体等多个组织中胆甾烷醇和胆固醇过度蓄积。由于青少年白内障是该疾病最常见且早期具有诊断意义的特征，因此分析患有白内障儿童的家族史、全身检查结果和白内障形态等因素至关重要。本研究旨在报告对来自一个近亲结婚家庭的四名患有独特青少年白内障的兄弟姐妹进行脑腱黄瘤病的早期诊断情况。
这是一项回顾性非对照病例系列研究。对四名有症状的兄弟姐妹及其无症状的父母进行了检查。进行了详细的眼部检查、病史分析、全身检查结果评估、生化检测和突变分析。
一名姐妹表现为双侧斑点状混浊和后囊下白内障，两名双胞胎姐妹除双侧斑点状混浊外，还患有前星形缝性白内障和后囊下白内障。之前在交通事故中死亡的20岁兄弟患有形态不明的双侧青少年白内障。经特别询问，所有病例均未描述有儿童腹泻病史。两名姐妹和一名兄弟有行走困难和言语迟缓等神经学表现。两名无症状的父母均未发现明显的眼部或全身异常。在所有有症状的病例中均检测到CYP27A1基因纯合的c.1263＋1 G>A（第7内含子）突变。
在没有慢性腹泻的情况下，青少年白内障（尤其是双侧斑点状混浊）的存在、家族史中的神经学症状以及父母的近亲关系可能对脑腱黄瘤病的早期诊断有很大帮助。
