Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature
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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Respiratory Medicine Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007123000679 |
| _version_ | 1797802887227637760 |
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| author | Wedad Alhazmi Afnan Qurban Essa Alrashidi |
| author_facet | Wedad Alhazmi Afnan Qurban Essa Alrashidi |
| author_sort | Wedad Alhazmi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-13T05:12:32Z |
| format | Article |
| id | doaj.art-e95d005603b040a5875abbac205c4308 |
| institution | Directory Open Access Journal |
| issn | 2213-0071 |
| language | English |
| last_indexed | 2024-03-13T05:12:32Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj.art-e95d005603b040a5875abbac205c43082023-06-16T05:09:39ZengElsevierRespiratory Medicine Case Reports2213-00712023-01-0144101872Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literatureWedad Alhazmi0Afnan Qurban1Essa Alrashidi2Department of Pediatric, Maternity and Children Hospital in Makkah, Saudi Arabia; Corresponding author.Department of Pediatric, Maternity and Children Hospital in Makkah, Saudi ArabiaDepartment of Pediatric, King Saud Medical City in Riyadh, Saudi ArabiaBackground: 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.http://www.sciencedirect.com/science/article/pii/S2213007123000679ChylothoraxGeneralized lymphatic dysplasiaLymphangiectasiaPIEZO1 |
| spellingShingle | Wedad Alhazmi Afnan Qurban Essa Alrashidi Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature Respiratory Medicine Case Reports Chylothorax Generalized lymphatic dysplasia Lymphangiectasia PIEZO1 |
| title | Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature |
| title_full | Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature |
| title_fullStr | Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature |
| title_full_unstemmed | Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature |
| title_short | Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature |
| title_sort | case report of generalized lymphatic dysplasia with piezo1 mutation and review of the literature |
| topic | Chylothorax Generalized lymphatic dysplasia Lymphangiectasia PIEZO1 |
| url | http://www.sciencedirect.com/science/article/pii/S2213007123000679 |
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