Department of Pediatric Metabolism, Konya City Hospital, University of Health Sciences, Konya, Turkey (Dr Yılmaz); Department of Pediatric Nutrition and Metabolism, Faculty of Medicine, Selçuk University, Konya, Turkey (Dr Yılmaz).
Department of Pediatric Neurology, Konya City Hospital, University of Health Sciences, Konya, Turkey (Dr Çelik).
J Clin Lipidol. 2024 May-Jun;18(3):e452-e464. doi: 10.1016/j.jacl.2024.02.009. Epub 2024 Feb 28.
Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene.
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.
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.
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.
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.
脑腱性黄瘤病（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。
本研究旨在评估确诊的 CTX 患者，并揭示新的信息，尤其是 CTX 的体征和患者对治疗的反应。
本研究为回顾性研究，纳入 12 例确诊的 CTX 患者。分析患者的临床、实验室、影像学、遗传学发现以及鹅去氧胆酸（CDCA）治疗结果。
患者的中位诊断年龄为 16.5 岁（最小-最大：7-32 岁）。超过 90%（11/12）的患者存在青少年性白内障，这是最常见的临床发现。面颊疹，以前在 CTX 文献中没有报道过，存在于 75%（9/12）的患者中。手部震颤，即第一个神经症状，发生在青春期，是 5 名患者疾病的初始症状。83.3%（10/12）的患者存在手部震颤。手部震颤（5 例）和面颊疹（2 例）是 CDCA 治疗后完全或部分恢复的临床发现。
本研究将面颊疹这一以前文献中未报道过的发现定义为 CTX 疾病的一种可能的新的临床发现，其可能与 CDCA 治疗后的部分或完全恢复有关。此外，作为文献中的一个新发现，我们的研究强调了 CTX 中手部震颤等神经学发现的完全恢复。表现为手部震颤和面颊疹，尤其是在青春期的患者，应进行 CTX 检查以进行早期诊断和治疗。
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