Liang Zhu-Wei, Gao Wan-Li
Department of Obstetrics and Gynecology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.
World J Clin Cases. 2023 Jul 26;11(21):5179-5186. doi: 10.12998/wjcc.v11.i21.5179.
Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels. Congenital lymphangiectasia can affect various organ systems; however, it frequently occurs in the lungs accompanied with unexplained pleural effusion. Further, it might not be diagnosed during prenatal examination owing to the absence of pronounced abnormalities. However, after birth the newborn rapidly develops respiratory distress that quickly deteriorates. Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease. We report a rare case of heterozygous mutation of 3 and 4 genes, which have not been reported previously.
We analysed the case of a neonate who had presented with only pleural effusion at a late gestational age and eventually died due to its inability to establish spontaneous breathing after birth. An autopsy revealed lymphangiectasia of the organ systems. Further, whole exome sequencing revealed heterozygous mutations of the lymphangiogenesis-controlling genes, 3 and 4, and Sanger verification revealed similar lesions in the mother with no symptoms.
Considering the presented case, obstetricians should observe unexplained foetal pleural effusion, and perform pathology analysis and whole exome sequencing for a conclusive diagnosis and prompt treatment.
先天性淋巴管扩张症是一种罕见疾病，其特征为间质淋巴管扩张和淋巴管囊性扩张。先天性淋巴管扩张症可累及多个器官系统；然而，它常发生于肺部并伴有不明原因的胸腔积液。此外，由于缺乏明显异常，产前检查时可能无法诊断。然而，出生后新生儿会迅速出现呼吸窘迫且病情迅速恶化。控制淋巴管发育的蛋白质的基因变异导致了该疾病的病理生理过程。我们报告一例罕见的3个和4个基因杂合突变病例，此前未见相关报道。
我们分析了一例新生儿病例，该新生儿在孕晚期仅出现胸腔积液，出生后因无法自主呼吸最终死亡。尸检显示各器官系统存在淋巴管扩张症。此外，全外显子测序显示淋巴管生成控制基因3和4存在杂合突变，桑格验证显示母亲有类似病变但无症状。
鉴于所呈现的病例，产科医生应关注不明原因的胎儿胸腔积液，并进行病理分析和全外显子测序以明确诊断并及时治疗。
