A case of Noonan's syndrome with anomalous lymphorenal communication

A 12-year-old boy with phenotypic characteristics of Noonan’s syndrome who previously in 1997 underwent surgery for pulmonary stenosis, presented with a two-week history of passing ‘whitish-coloured urine’. This was biochemically and cytologically confirmed as chyluria but occasional red blood cells and mature reactive lymphocytes were also detected in the urine. From the age of 4 years he presented with intermittent short episodes of chyluria with spontaneous regression of symptoms following each episode. When his chyluria became protracted over a two-week period, however, he was referred for lymphoscintigraphy. Tc Sulphur colloid whole body lympho-scintigraphy was performed with 18.5 MBq administered subcutaneously in the first web space of both feet (Figure 1). Images were acquired in a 128 x 128 matrix with a Siemens orbiter 7500 gamma camera and a LEEP collimator. This demonstrated early visualization of the external and internal iliac lymph nodes and of both kidneys and ureters. At 25 min post injection the urinary bladder was also visualized. Ultrasound of the renal tract was reported as normal except for the observation of an undescended right testis which was identified in the inguinal region. Contrast-enhanced computerized tomography (CT) of the chest, abdomen and pelvis was also unremarkable except for the presence of multiple gallstones previously identified at sonography. An IVU performed for the exclusion of pyelo-ureteric stenosis, a known association of Noonan’s syndrome was also unremarkable.