Ouyang Lixue, Yang Fan, Duan Hongyu, Wang Chuan
Department of Pediatrics, West China Second University Hospital, Chengdu, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Chengdu, China.
Front Genet. 2024 Dec 23;15:1453195. doi: 10.3389/fgene.2024.1453195. eCollection 2024.
Autosomal recessive cutis laxa type 1B (ARCL1B) is an extremely rare disease characterized by severe systemic connective tissue abnormalities, including cutis laxa, aneurysm and fragility of blood vessels, birth fractures and emphysema. The severity of this disease ranges from perinatal death to manifestations compatible with survival. To date, no cases have been reported in the Chinese population. Due to its rarity, the disease is susceptible to misdiagnosis or missed diagnosis by clinicians. By presenting this case and reviewing the relevant literature, the aim is to enhance clinicians' awareness and vigilance in diagnosing this disease.
We report a 7-month-old Chinese male infant who initially presented with severe respiratory infection, respiratory failure, and heart failure, and was misdiagnosed with Takayasu arteritis. Despite treatment, his condition did not improve. Due to the features of vascular malformations, developmental delay, and early onset of the disease, whole exome sequencing (WES) was performed, results revealed a homozygous mutation c.464A>C in exon 5 on the gene p. (Tyr155Ser) that had never been reported before. Molecular protein prediction results suggest that this mutation site exhibits a high probability of pathogenicity. Combining the clinical manifestations, the results of cardiac color ultrasound and cardiac great vessels angiography, and the WES results, the patient was finally diagnosed with ARCL1B. Given the absence of established guidelines for the clinical manifestation, treatment, follow-up, and prognosis of ARCL1B, we searched the literatures of pubmed and web of science from inception to February 2024 to provide an essential reference for physicians to deepen the understanding of ARCL1B.
The gene mutation identified in this patient has not been previously reported, expanding the mutation spectrum of the gene. This is the first documented case of this disease in the Chinese population. The diagnostic and therapeutic journey of this patient, along with the accompanying literature review, provides valuable insights. It highlights the importance of clinicians maintaining a high level of vigilance when encountering cases involving younger patients with multiple pulmonary artery aneurysms, as they may indicate the presence of this rare disease.
常染色体隐性遗传性皮肤松弛症1B型（ARCL1B）是一种极其罕见的疾病，其特征为严重的全身性结缔组织异常，包括皮肤松弛、动脉瘤和血管脆性增加、出生时骨折以及肺气肿。该疾病的严重程度从围产期死亡到与存活相容的表现不等。迄今为止，中国人群中尚未有病例报道。由于其罕见性，临床医生容易对该疾病误诊或漏诊。通过呈现此病例并回顾相关文献，目的是提高临床医生对该疾病诊断的认识和警惕性。
我们报告一名7个月大的中国男婴，最初表现为严重的呼吸道感染、呼吸衰竭和心力衰竭，被误诊为大动脉炎。尽管进行了治疗，其病情并未改善。由于存在血管畸形、发育迟缓以及疾病早发的特征，遂进行了全外显子测序（WES），结果显示在基因p.的第5外显子上存在一个纯合突变c.464A>C（p.(Tyr155Ser)），此突变此前从未有过报道。分子蛋白预测结果表明该突变位点具有很高的致病性。结合临床表现、心脏彩色超声和心脏大血管血管造影结果以及WES结果，该患者最终被诊断为ARCL1B。鉴于目前尚无关于ARCL1B临床表现、治疗、随访及预后的既定指南，我们检索了自开始至2024年2月的PubMed和Web of Science文献，为医生加深对ARCL1B的理解提供重要参考。
该患者中鉴定出的基因突变此前未曾报道，扩展了该基因的突变谱。这是中国人群中该疾病的首例文献记载病例。该患者的诊断和治疗过程以及所附的文献综述提供了有价值的见解。它强调了临床医生在遇到涉及患有多个肺动脉瘤的年轻患者的病例时保持高度警惕的重要性，因为这可能提示存在这种罕见疾病。
