PATIENT WITH COSTELLO SYNDROME: LITERATURE REVIEW AND CLINICAL CASE
Abstract
Costello syndrome belongs to RAS-pathies and is a multisystem disease based on a heterozygous mutation of the HRAS gene. Frequent characteristic features are a specifi c phenotype with dysmorphic facial features, delayed mental and psychomotor development, and a tendency to develop neoplasms. The biphasic growth of patients with the development of severe nutritional defiiency after birth causes diffi culties in correcting the trophological status. A wide range of diseases included in the range of diff erential diagnosis with polymorphism of the clinical picture of the disease can cause diffi culties in early diagnosis and adequate therapy. The article provides a review of the literature devoted to the analysis of the mechanisms of development of Costello syndrome, as well as a 4-year observation of a patient whose clinical picture consisted of mental retardation, impaired psychomotor and physical development, severe protein-energy deficiency, dermatological complications, as well as the development of embryonic rhabdomyosarcoma of the bladder.
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