Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families. Methods: We have retrospectively evaluated clinical, laboratory, imaging, and genetic findings of CTX patients, which were collected from 2 centers specialized in movement disorders: the Department of Neurology, Faculty of Medicine, Istanbul University, and the Department of Neurology, Faculty of Medicine, Mersin University. Results: All patients were diagnosed with CTX after neurological symptom development, and their mean age at diagnosis was 38.7 ± 9.6 years, despite a mean onset age of 12.4 ± 10.6 years. The mean follow-up period was 28 months (range: 3–60 months). The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (42%), febrile convulsion (42%), juvenile cataract (85%), childhood depression and autism (14%), parkinsonism (14%), and intellectual disability (100%). The most prominent neurological findings were the pyramidal-cerebellar syndrome (85%) and extrapyramidal signs (42%). All patients were genetically confirmed. Serum cholestanol levels were elevated in all patients and decreased after chenodeoxycholic acid (CDCA) treatment in 6 patients. Conclusion: This cohort is the largest CTX case series in Turkey. All cases showed improvement in gastrointestinal symptoms as a response to CDCA treatment and stabilization on neurological symptoms, i.e., no further progression of neurological abnormalities were noted during this treatment. Therefore, early diagnosis and treatment is crucial in preventing clinical deterioration.

中文翻译：

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最近确诊的脑腱黄瘤病患者

目的：脑腱黄瘤病（CTX）是一种罕见的常染色体隐性先天性脂质贮积病，由 CYP27A1 基因的各种致病突变引起。尽管症状通常在婴儿期开始，但 CTX 诊断通常会延迟。在这项研究中，我们报告了 7 名土耳其 CTX 患者，尽管有早期临床症状，但仍被延迟诊断，并且属于 6 个无关家庭。方法：我们回顾性评估了 CTX 患者的临床、实验室、影像学和遗传学发现，这些发现来自 2 个专门研究运动障碍的中心：伊斯坦布尔大学医学院神经内科系和神经内科系。医学，梅尔辛大学。结果：所有患者在出现神经系统症状后均被诊断为 CTX，诊断时的平均年龄为 38.7±9.6 岁，尽管平均发病年龄为 12.4 ± 10.6 岁。平均随访时间为 28 个月（范围：3-60 个月）。我们队列中最常见的初始临床异常是不明原因的慢性腹泻 (42%)、热性惊厥 (42%)、青少年白内障 (85%)、儿童抑郁症和自闭症 (14%)、帕金森症 (14%) 和智力障碍(100%)。最突出的神经系统表现是锥体小脑综合征（85%）和锥体外系征（42%）。所有患者均经基因证实。所有患者的血清胆甾醇水平均升高，6 名患者在鹅去氧胆酸 (CDCA) 治疗后降低。结论：该队列是土耳其最大的 CTX 病例系列。所有病例均显示胃肠道症状有所改善，作为对 CDCA 治疗的反应和神经系统症状的稳定，即，在此治疗期间未发现神经系统异常的进一步进展。因此，早期诊断和治疗对于预防临床恶化至关重要。