and gene mutations result in congenital lymphangiectasia in newborns: A case report.

BACKGROUND

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.

CASE SUMMARY

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.

CONCLUSION

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.