Costello Syndrome: a Predisposition to Pelvic and Genito-urinary Rhabdomyosarcoma

Costello Syndrome: a Predisposition to Pelvic and Genito-urinary Rhabdomyosarcoma
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Title:Costello Syndrome: a Predisposition to Pelvic and Genito-urinary Rhabdomyosarcoma
Author/Abstract:Carlo C. Bisnar, MD and Edgar U. Lim, MD

Section of Urology, Department of Surgery, University of Santo Tomas Hospital


Costello syndrome, a very rare congenital anomaly is characterized by feeding difficulty, postnatal short stature, characteristic facial feature, curly hair, thick lips, loose skin, hyperpigmentation, abnormal palmar skin creases, developmental delay, mental retardation and congenital heart problems/ cardiomyopathy. It has been associated with a high incidence of benign and malignant tumors, particularly rhabdomyosarcoma, neuroblastoma, bladder carcinoma, vestibular schwannoma and epithelioma. Due to the high tumor frequency in this small group of patients, a controversy in the screening protocol has been called to attention. We report a 2-year old girl with Costello syndrome presenting as a pelvic rhabdomyosarcoma with invasion into the bladder. Management is discussed with particular attention to the diagnostic dilemma encountered due to the rarity of the disease.

Key words: Costello syndrome, rhabdomyosarcoma
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