Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature.

ABSTRACT:

Background

The newborn malformation of primary lymphatic dysplasia (PLD), developed primarily due to PIEZO1 gene autosomal recessive mutation, is known to hinder with the lymphatic system action, causing chyle or lymph effusion into the peritoneal cavity or pleura.

Case presentation

A 4-years-old male subject presented with a recurrent chylothorax and bilateral lower limb edema that started at age of 6 months. Lymphoscintigraphy showed lymphangiectasia with chylothorax. The whole exome sequence consisted of Pathogenic variants in PIEZO1 gene associated with lymphatic malformation type 6 (LMPHM6).

Conclusion

This is the first reported pediatric case of PIEZO1 gene mutation in Saudi Arabia. This case highlighted the wide differential diagnosis of recurrent chylot

SUBMITTER: Alhazmi W 

PROVIDER: S-EPMC10238584 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature