Neurofibromatosis 1 associated with embryonal rhabdomyosarcoma of the urinary bladder

A 10-month-old boy presented with a G-week history of abdominal pain. The p ain was due to a large, stage IV embryonal rhabdomyosarcoma of the urinary bladder The rhabdomyosarcoma was found in association with neurofibromatosi s I (NF1) manifesting multiple cafe au lair spots and bowing of the right c alf The diagnosis of NF1 had not been made before presentation. This case r eport is intended to heighten the awareness of the manifestations of NF1 an d the possibility of developing a nonneuroectodermal tumor as a concomitant of NF1, and to emphasize the importance of timely diagnosis and treatment of such an NF1-associated malignancy. Reports of the epidemiologic evidence for rhabdomyosarcoma in children with NF1 are reviewed.