Noonan syndrome and scrotal lymphedema: primary or secondary?

摘要

A full-term new-born boy with no relevant family history presented with respiratory distress at birth. He had a panfocal systolic murmur and dysmorphic fades (flat occiput, hypertelorism, epicanthus, anti-mongoloid palpebral slits, rotated ears, deep philtrum, and pteri-gium coli), skeletal anomalies (pectus excavatum, meta-tarsovarus), and bilateral cryptorchidism. When the infant was 1-month old, he was diagnosed as having moderate pulmonary stenosis and retarded milestones, which together with a normal XY karyotype, led to the diagnosis of Noonan syndrome (NS). His cryptorchidism was treated surgically, while the pulmonary stenosis was treated by balloon valvuloplasty, and both operations were successful. The abnormalities of the skin, including facial lesions involving follicular hyperkerato-sis and loss of hair from the outer aspects of the eyebrows, were compatible with a diagnosis of ulerythema ophryogenes. Also seen were lentigines with a segmental distribution on the left side of his neck and shoulder.