Alsaleem Badr Mohammad, Ahmed Amna Basheer, Alruwaithi Muhannad M, Alamery Tarig Yassin, Alrajhi Norah Nasser
Pediatric Gastroenterology Section, Intestinal Failure Program, Children's Hospital, King Fahad Medical City, Riyadh Second Health Cluster, Riyadh 11525, Saudi Arabia.
Pediatric Department, South Al Qunfudah General Hospital, Al Qunfudah 28821, Saudi Arabia.
Mol Genet Metab Rep. 2025 Jan 13;42:101188. doi: 10.1016/j.ymgmr.2025.101188. eCollection 2025 Mar.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic genetic disease resulting from defects in the bile acid metabolism. This report describes cases diagnosed with CTX at an exceptionally early age - 4 months (Patient #2 and #3) - making them the youngest reported cases to date. All three presented with intractable congenital diarrhea, a hallmark manifestation of the disease. The diagnosis was confirmed through metabolic bile acids analysis in urine and genetic testing. The siblings were treated with Chenodeoxycholic acid (15 mg/kg/day) during the first year of treatment, resulting in an improvement in diarrhea in all three. However, cognitive function remained unimproved in one patient. Additionally, the presence of dysmorphic features, observed in these patients, have not been documented in previous CTX cases. The diagnosis prompted solely by the persistent diarrhea, highlights a critical, under-recognized early manifestation. These findings underscore the importance of raising awareness among physicians to enable early diagnosis and timely treatment, which may prevent disease progression.
脑腱黄瘤病（CTX）是一种罕见的常染色体隐性神经代谢性遗传病，由胆汁酸代谢缺陷引起。本报告描述了在异常早期（4个月）被诊断为CTX的病例（患者2和患者3），这使他们成为迄今为止报告的最年轻病例。所有三名患者均出现顽固性先天性腹泻，这是该疾病的一个标志性表现。通过尿液中的代谢胆汁酸分析和基因检测确诊。在治疗的第一年，这三名兄弟姐妹接受了鹅去氧胆酸治疗（15毫克/千克/天），结果三人的腹泻均有所改善。然而，其中一名患者的认知功能仍未改善。此外，这些患者中观察到的畸形特征在以前的CTX病例中尚未有记录。仅由持续性腹泻引发的诊断，突出了一个关键的、未被充分认识的早期表现。这些发现强调了提高医生意识以实现早期诊断和及时治疗的重要性，这可能预防疾病进展。
