A case of Noonan syndrome with pulmonary and abdominal lymphangiectasia

Abstract

Noonan syndrome is characterised by a Turner-like phenotype and a normal karyotype. Although it is reported to be associated with abnormalities of the lymphatic system, involvement of the pulmonary lymphatics is rare. We present a case of Noonan syndrome where a whole body scintigraphy revealed lymphangiectasia of the lower extremities, abdomen and lungs.