Neonatal Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza, 28, 20122, Milan, Italy.
Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Ital J Pediatr. 2024 May 7;50(1):94. doi: 10.1186/s13052-024-01643-8.
congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hernia; or it can be an anterior-retrosternal defect, named Morgagni hernia. Marfan syndrome (MFS) is a rare autosomal dominant inherited condition that affects connective tissue, caused by mutations in fibrillin-1 gene on chromosome 15. To date various types of diaphragmatic defects (about 30 types) have been reported in association with MFS, but they are heterogeneous, including CDH and paraesophageal hernia.
We describe the case of a child incidentally diagnosed with Morgagni hernia through a chest X-ray performed due to recurrent respiratory tract infections. Since the diagnosis of CDH, the patient underwent a clinical multidisciplinary follow-up leading to the diagnosis of MFS in accordance with revised Ghent Criteria: the child had typical clinical features and a novel heterozygous de novo single-base deletion in exon 26 of the FBN1 gene, identified by Whole-Exome Sequencing. MFS diagnosis permitted to look for cardiovascular complications and treat them, though asymptomatic, in order to prevent major cardiovascular life-threatening events.
Our case shows the importance of a long-term and multidisciplinary follow-up in all children with diagnosis of CDH.
先天性膈疝（CDH）是一种发生于孤立或综合征（染色体或单基因）条件下的出生缺陷。膈缺损可能是最常见的：左侧后外侧，命名为 Bochdalek 疝；也可能是前胸骨后缺陷，命名为 Morgagni 疝。马凡综合征（MFS）是一种罕见的常染色体显性遗传性疾病，影响结缔组织，由 15 号染色体上纤维连接蛋白 1 基因的突变引起。迄今为止，已经在与 MFS 相关的情况下报告了各种类型的膈缺损（约 30 种），但它们具有异质性，包括 CDH 和食管旁疝。
我们描述了一例儿童病例，该患儿因反复呼吸道感染行胸部 X 线检查偶然诊断为 Morgagni 疝。由于 CDH 的诊断，该患者接受了临床多学科随访，根据修订后的根特标准诊断为 MFS：患儿具有典型的临床特征和 FBN1 基因外显子 26 中新发的杂合性缺失单碱基突变，通过全外显子组测序确定。MFS 的诊断允许寻找心血管并发症并进行治疗，尽管无症状，但为了预防主要的心血管危及生命的事件。
我们的病例表明，所有诊断为 CDH 的儿童都需要进行长期和多学科的随访。
