https://doi.org/10.4081/monaldi.2020.1576
Primary pulmonary lymphangiectasia in Noonan syndrome: apropos of an extremely rare manifestation and a brief literature review
Accepted: September 23, 2020
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Authors
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.
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