TY - JOUR AU - Dendrinou, Georgia-Emmanuela AU - Zagarelos, Panagiotis AU - Sofronas, Angelos AU - Katsenos, Stamatis PY - 2020/12/10 Y2 - 2024/03/28 TI - Primary pulmonary lymphangiectasia in Noonan syndrome: apropos of an extremely rare manifestation and a brief literature review JF - Monaldi Archives for Chest Disease JA - Monaldi Arch Chest Dis VL - 90 IS - 4 SE - Pneumology - Case Reports DO - 10.4081/monaldi.2020.1576 UR - https://www.monaldi-archives.org/macd/article/view/1576 SP - AB - <p>Noonan syndrome (NS) is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, bleeding difficulties and lymphatic malformations. Although lymphatic dysplasias are present in 20% of patients with NS, however pulmonary lymphangiectasia has rarely been described. In this present paper, we report a 24-year-old male who was diagnosed with Noonan syndrome and primary pulmonary lymphangiectasia by using chest imaging modalities. A brief overview of the current literature is also provided laying emphasis on the clinical, pathogenetic and diagnostic aspects of this uncommon Noonan syndrome complication.</p> ER -