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Usefulness of lymphoscintigraphy in demonstrating lymphedema in patients with Noonan syndrome.

Lymphatic dysplasia/hypoplasia is found in 15% to 20% of patients with Noonan syndrome. We report a 16-year-old boy with a classic phenotype of Noonan syndrome but a normal karyotype in chromosomal study. During the last 5 years, he had progressive bilateral lower limb edema. The microfilaria study, duplex sonography, and MRI of the lower extremities were all unremarkable. But lymphoscintigraphy showed stocking-like dermal backflow in both legs, delayed lymphatic flow to the inguinal nodes, and dilated lymphatic channels in the abdomen and thorax. These findings suggest that lymphoscintigraphy may be useful in providing vital information on the lymphatic drainage for patients with Noonan syndrome.