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16 year old boy with non-familial, multiple subcutaneous blue rubber bleb nevi (BRBN) since birth presented to us at the age of 13. The BRBN had increased in size over the years. He also had other minor dysmorphic anomalies and was mentally and physically mildly subnormal. Although some of his features were similar to those seen in Noonan’s syndrome, he lacked major elements of this condition and the presence of BRBN was extremely unusual. Bean’s syndrome (BRBN and gastrointestinal bleeding or iron deficiency anaemia) was considered but he had no gastrointestinal involvement. The absence of enchondromata argued against Maffucci’s syndrome (BRBN and enchondromata) in this boy. His chromosomes were normal. After thorough investigation the overall picture remained that of an uncertain or a non-specific syndrome. Because of the widespread blebs he underwent a number of imaging examinations including contrast venography of the arms, technetium-99m (99mTc) red blood cell blood pool scanning, and magnetic resonance imaging (MRI) of the brain. Venography revealed multiple haemangiomata and was restricted to limited views of the hand (fig 1) and arm. 99mTc red blood cell blood pool imaging of the entire body demonstrated several subcutaneous lesions as well as in other soft tissues and feet (fig 2A, B, C). MRI confirmed sparing of the brain.
This case demonstrates the ability of the 99mTc red blood cell blood pool scan to detect widely scattered lesions. The whole body was surveyed during a single examination without any increase in the radiation burden to the patient as only one dose is required. Furthermore, this procedure is non-invasive and relatively simple to perform. On the other hand, contrast venography was limited to views of the upper limb, as once the presence of haemangiomata was confirmed the study was stopped in order to reduce the radiation exposure and amount of contrast given, particularly because of the patient’s young age.