Embryonal Rhabdomyosarcoma associated with tuberous sclerosis

✍ Scribed by Armada, Ricardo Cabanas ;Ramos, Martha Longchong ;Marrero, Pedro ;Pascual, Joaqu�n

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 45 KB
• Volume: 38
• Category: Article
• ISSN: 0098-1532
• DOI: 10.1002/mpo.1338

✦ Synopsis

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and young adults under the age of 21, accounting for approximately two-thirds of all sarcomas in this age group [1,2]. It has been associated with neuro®bromatosis and the Rubinstein-Taibi, Roberts, Li Fraumeni, and Beckwith Wiedeman syndromes [2,3], but we have not found a report of RMS in association with the tuberous sclerosis complex in a review of the English language literature [4±9].

For the record, we therefore describe a girl with an embryonal RMS located in the thoracic wall found at 1 year of age. Surgery and chemotherapy led to a complete remission. She had hypomelanotic maculas of the skin at birth and at age 4 years developed spasmotic seizures. A CT scan showed subependymal calci®ed nodules in the lateral ventricles (Fig. 1), diagnostic of tuberous sclerosis complex according to the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association [10]. A few months thereafter, our then 5year-old patient died because of uncontrollable progressive malignant disease.