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 chylothorax and lower limb edema, as well as the relative literature on the molecular foundation, clinical scale, pathophysiology, and lymphatic malformation treatment. patients can be improved via application of standardized chylothorax and lymphedema therapies. Overall, awareness of the diseases related to the thoracic lymphatic circulation should be observed as its prognosis may highly promote better approaches for its management.

Keywords: Chylothorax; Generalized lymphatic dysplasia; Lymphangiectasia; PIEZO1.

Fig. 1

Initial chest x-ray images showing opacity in the right hemithorax (a) at the time of presentation and (b) after follow-up.

Fig. 2

CT chest images showing right-sided moderate quantity of loculated pleural fluid collection (empyema) (a), and subsegmental collapse pneumonic/atelectatic consolidation atelectatic changes in the right lung lobes (b).

Fig. 3

Lymphoscintigraphy images (a and b) likely representing lymphangiectasia with chylothorax.

Fig. 4

The lymphatic system drainage pathway.