Role of Brachytherapy in the Treatment of Endocavitary Lesions Associated With Costello Syndrome

Abstract: Costello syndrome is a rare genetic disease first described in 1971 by New Zealand doctor Jack Costello, from whom the name derives. 14 years after the first report, its actual existence was confirmed by two American authors, who expanded its distinctive characteristics. A true incidence of Costello syndrome has not been calculated. Over 100 cases of affected patients are described in the literature. In assisting patients affected by this syndrome, the collaboration of various specialists such as the pediatrician-dysmorphologist, the cardiologist, the endocrinologist, the child neuropsychiatrist, the orthopedist, the physiatrist, the ophthalmologist, the otolaryngologist, etc. is necessary. It is important that the management of such patients is entrusted to doctors who know the problems of the syndrome and to structures suited to their needs in order to be able to intervene favorably and with adequate therapeutic and rehabilitation measures. It is due to modification of the genetic material, which cannot be detected with the standard karyotype examination. Most of the known cases have been described in families with healthy parents and siblings, thus suggesting that the origin of the syndrome is the de novo alteration of a single gene (autosomal dominant de novo mutation). Recently, the mutation of a gene located on chromosome 11, the HRAS gene, which is part of the RAS protooncogene family, has been identified in approximately 80% of patients. The characteristic elements of the syndrome are represented by growth retardation, psychomotor retardation, facial anomalies, skin anomalies, heart disease, skeletal and joint alterations. The complete clinical picture is not present from birth, the clinical phenotype evolves over time and some clinical signs appear later. In a variable percentage, children affected by Costello syndrome may present other clinical disorders such as visual disorders (strabismus, refractive errors), scoliosis, sleep disorders (in particular apnea), tendency to the development of tumors (neuroblastoma, rhabdomyosarcoma, bladder tumors).