A clinical case of extremely severe major venes displasia in a child

Abstract

Dysplasia of the great veins (DMV) is known by the names of the authors who described this pathology as KlippelTrenone syndrome. The clinical picture of the KlippelTrenone syndrome in the classic description of the authors is characterized by a triad of symptoms: vascular spots, atypical varicose veins, hypertrophy of soft tissues and bones with an increase in the volume and length of the affected limb. It should be emphasized that the severity of these symptoms depends, first of all, on the type of lesion (embryonic or fetal) and the severity of the lesion. KlippelTrenone syndrome is almost always sporadic, meaning that it develops in people with no family history of the disorder. Research shows that this condition is due to gene mutations that are not inherited. These genetic changes, called somatic mutations, occur randomly in a single cell during the early stages of development before birth. KlippelTrenone syndrome can be caused by mutations in the PIK3CA gene. This article presents a clinical observation the course of the disease of a 1-year-old child, with an extremely severe form of dysplasia of the great veins. In the presented clinical observation, attention is drawn to the difficulties of treating this patient against the background of the underlying chronic disease. The treatment of these patients should be carried out on the basis of a multidisciplinary hospital, which includes specialists in vascular surgery, an orthopedist and an intensive care physician. On the example of the described case, diagnostic tactics and surgical treatment are demonstrated. It is obvious that timely surgical and conservative treatment of pathology in children with dysplasia of the great veins improves the quality of life and social adaptation of children.