Plexiform neurofibroma and abnormality of basal ganglia in Watson's syndrome

A 4 year-old boy was referred for diagnostic reevaluation with known pulmon ary valve stenosis. Physical examination revealed multiple cafe-au-lait spo ts, inguinal freckling and on the right side in supraclavicular region a so ftly, non-painful tumour. The boy showed a mild mental and language retarda tion. Ultrasound and MRT demonstrated supraclavicular a plexiform neurofibr oma and intracranial increased intensity lesions in basal ganglia and mesen cephalon, In our patient, we have diagnosed a Watson-Syndrom, the overlap a nd differences to neurofibromatosis type I is discussed.