Wedad Alhazmia, Afnan Qurbana, Essa Alrashidi
Maternity and Children Hospital in Makkah. King Saud Medical City in Riyadh.
Saudi Arabia
Respiratory Medicine Case Reports
Respir Med Case Rep 2023; 44:
DOI: 10.1016/j.rmcr.2023.101872
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.
Category
Pulmonary Lymphatic Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes