Respiratory distress syndrome due to pulmonary hypoplasia and neonatal congenital lymphedema

Alfonso, Julio César Moreno; Martínez, Alberto Pérez; Caballero, Ada Y. Molina; Pascual, Carlos Bardají

doi:10.1016/j.anpede.2023.02.010

Cited by 1 publication

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“…The genetic spectrum of vascular malformations continues to expand, with several genes identified as responsible for lymphatic disorders such as PIK3CA in PROS, FLT4 in hereditary lymphedema (Milroy), VEGFC or GJC2 in primary hereditary lymphedema, SOX18 in hypotrichosis-lymphedema-telangiectasia syndrome, and FOXC2 in lymphedemadistichiasis syndrome. 8,[11][12][13] In contrast, the genetic spectrum of high-flow vascular malformations is more limited, with RASA1 in CM-AVM1 and PWS, EPHB4 in CM-AVM2, and MAP2K1 and KRAS in sporadic AVM. 14 This study found two somatic mutations in KRAS in our patients, which have not been previously described in Parkes Weber Syndrome.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Lymphatic Malformations in Parkes Weber's Syndrome: Retrospective Review of 16 Cases in a Vascular Anomalies Center

Moreno Alfonso,

Méndez-Maestro,

Coll i Prat

et al. 2023

Eur J Pediatr Surg

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Introduction: Parkes Weber Syndrome (PWS) is a rare genetic disorder characterized by overgrowth and vascular malformations, primarily affecting the extremities. While PWS is known to be associated with arteriovenous and capillary malformations, the potential involvement of lymphatic malformations has not been previously reported. The objective of this study is to investigate the presence of lymphatic anomalies in Parkes Weber syndrome patients and their role in the development of limb asymmetry. Material and Methods: Retrospective study of patients diagnosed with Parkes Weber syndrome in a Vascular Anomalies Center from 1994 to 2020. Clinical data were obtained from medical records including diagnostic imaging, lymphoscintigraphy and genetic testing. The Institutional Ethics Review Board has approved this study. Results: A total of 16 patients aged 18 IQR 14.7 years diagnosed with Parkes Weber syndrome were included (50% female). Six of the 16 patients with Parkes Weber syndrome had clinical and imaging data suggestive of lymphatic malformation (37.5%) and three of them had genetic variants in RASA1 (2/3) or KRAS (1/3). Limb asymmetry was greater in patients with isolated Parkes Weber syndrome (2.6 ± 0.8 cm) than in the PWS-lymphatic anomalies population (2 ± 0.7 cm), although not significant (p= 0.247) (Figure). One in six patients with PWS-LM required amputation (16.6%) versus 1/10 in isolated Parkes Weber syndrome (10%). Conclusions: Lymphatic anomalies may be present in a significant number of patients with Parkes Weber Syndrome and could have a role in limb asymmetry and outcomes. It is paramount to investigate their existence and distinguish them from true overgrowth.

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