A rare case of Klippel-Trenaunay-Weber syndrome in a child

Abstract

Klippel-Trenon-Weber syndrome is a rare congenital disorder characterized by polymorphism of clinical manifestations, including vascular malformations, skeletal deformities, facial asymmetry and other developmental anomalies. The study of this syndrome is driven by its rarity, complexity of diagnosis and treatment, and significant impact on the quality of life of patients. Early diagnosis and adequate surgical intervention can significantly improve the prognosis and reduce the risk of serious complications This is a rare congenital disease characterized by a triad of symptoms: angiodysplasia, congenital skeletal anomalies and muscle hypertrophy. This syndrome is caused by a defect in the keratin 13 gene (KRT13), which causes dysfunction of cells of ectodermal origin, including keratinocytes, endothelial cells and ectodermal cells. Clinical symptoms of the syndrome may include hydrocephalus, congenital kidney defects, limb abnormalities, and other pathological changes. Treatment usually depends on the specific symptoms and complications and may include surgery, drug therapy, physiotherapy and rehabilitation. Understanding the genetic mechanisms and factors that cause the syndrome will allow us to develop more effective diagnostic and treatment methods and improve the prognosis for patients. The aim of the study was to demonstrate a clinical case of this extremely rare paediatric pathology, to show the peculiarities of its diagnosis and treatment. The peculiarity of this patient was a deformity (severe thickening) of the right foot at birth. In the process of growth, the deformity of the right foot increased, making it impossible to use standard shoes. The subcutaneous venous network on the right lower limb became stronger. The course of this disease and the treatment performed are described.

Keywords: syndactyly, hypertrophy, foot, surgery, limb asymmetry, congenital anomaly.