Abstract：
BACKGROUND: Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene.
OBJECTIVE: The study aims to evaluate patients diagnosed with CTX and reveal new information, especially about the signs of CTX and patients\' response to the treatment.
METHODS: The study was conducted retrospectively in 12 definitively diagnosed CTX patients. The patients\' clinical, laboratory, imaging, genetic findings, and chenodeoxycholic acid (CDCA) treatment results were analyzed.
RESULTS: The median age at diagnosis for the patients was 16.5 years (minimum-maximum: 7-32). Juvenile cataracts, detected in more than 90% (11/12) of the patients, were the most common clinical finding. Malar rash, not previously reported in the literature for CTX, was present in 75% (9/12) of the patients. Hand tremors, the first neurological symptom, occurred in adolescence and were the initial symptom of the disease in five patients. Hand tremors were present in 83.3% (10/12) of the patients. Hand tremors (in 5 patients) and malar rash (in 2 patients) were clinical findings with full recovery due to the CDCA treatment.
CONCLUSIONS: The study defines the malar rash finding, which has not been reported in the literature before, as a possible new clinical finding in CTX disease, attributed to its partial or full recovery with CDCA treatment. Additionally, as a novelty in the literature, our study highlights the full recovery of neurological findings, such as hand tremors, in CTX. Patients presenting with hand tremors and malar rash, especially in adolescence, should undergo CTX investigation for early diagnosis and treatment.
OBJECTIVE: The study aims to evaluate patients diagnosed with CTX and reveal new information, especially about the signs of CTX and patients\' response to the treatment.
METHODS: The study was conducted retrospectively in 12 definitively diagnosed CTX patients. The patients\' clinical, laboratory, imaging, genetic findings, and chenodeoxycholic acid (CDCA) treatment results were analyzed.
RESULTS: The median age at diagnosis for the patients was 16.5 years (minimum-maximum: 7-32). Juvenile cataracts, detected in more than 90% (11/12) of the patients, were the most common clinical finding. Malar rash, not previously reported in the literature for CTX, was present in 75% (9/12) of the patients. Hand tremors, the first neurological symptom, occurred in adolescence and were the initial symptom of the disease in five patients. Hand tremors were present in 83.3% (10/12) of the patients. Hand tremors (in 5 patients) and malar rash (in 2 patients) were clinical findings with full recovery due to the CDCA treatment.
CONCLUSIONS: The study defines the malar rash finding, which has not been reported in the literature before, as a possible new clinical finding in CTX disease, attributed to its partial or full recovery with CDCA treatment. Additionally, as a novelty in the literature, our study highlights the full recovery of neurological findings, such as hand tremors, in CTX. Patients presenting with hand tremors and malar rash, especially in adolescence, should undergo CTX investigation for early diagnosis and treatment.
摘要：
背景：脑性黄瘤病（CTX，OMIM＃213700）是一种罕见但可治疗的脂质贮积病，由CYP27A1基因突变引起。
目的：该研究旨在评估诊断为CTX的患者并揭示新信息，特别是关于CTX的体征和患者对治疗的反应。
方法：本研究对12例明确诊断的CTX患者进行了回顾性分析。患者的临床，实验室,成像,遗传发现,并对CDCA(鹅去氧胆酸)治疗结果进行分析。
结果：患者诊断时的中位年龄为16.5岁（最小-最大：7-32岁）。幼年性白内障,在超过90％（11/12）的患者中检测到，是最常见的临床发现。Malar皮疹,文献中没有报道过CTX，存在于75％（9/12）的患者中。手颤抖,第一个神经症状，发生在青春期，是5例患者的最初症状。83.3%(10/12)的患者出现手震颤。由于CDCA治疗，手部震颤（5例）和黄斑皮疹（2例）是临床发现，完全康复。
结论：该研究定义了黄斑皮疹的发现，以前文献中没有报道过，作为CTX疾病可能的新临床发现，归因于CDCA治疗部分或完全恢复。此外,作为文学中的新奇事物，我们的研究强调了神经系统发现的完全恢复，比如手颤抖，在CTX。患者出现手震颤和黄斑皮疹，尤其是在青春期,应进行CTX检查，以便早期诊断和治疗。
目的：该研究旨在评估诊断为CTX的患者并揭示新信息，特别是关于CTX的体征和患者对治疗的反应。
方法：本研究对12例明确诊断的CTX患者进行了回顾性分析。患者的临床，实验室,成像,遗传发现,并对CDCA(鹅去氧胆酸)治疗结果进行分析。
结果：患者诊断时的中位年龄为16.5岁（最小-最大：7-32岁）。幼年性白内障,在超过90％（11/12）的患者中检测到，是最常见的临床发现。Malar皮疹,文献中没有报道过CTX，存在于75％（9/12）的患者中。手颤抖,第一个神经症状，发生在青春期，是5例患者的最初症状。83.3%(10/12)的患者出现手震颤。由于CDCA治疗，手部震颤（5例）和黄斑皮疹（2例）是临床发现，完全康复。
结论：该研究定义了黄斑皮疹的发现，以前文献中没有报道过，作为CTX疾病可能的新临床发现，归因于CDCA治疗部分或完全恢复。此外,作为文学中的新奇事物，我们的研究强调了神经系统发现的完全恢复，比如手颤抖，在CTX。患者出现手震颤和黄斑皮疹，尤其是在青春期,应进行CTX检查，以便早期诊断和治疗。
