Lejeune's syndrome in children: modern ideas

Lejeune syndrome, Cri du Chat syndrome (CdCS), cat cry syndrome, deletion syndrome of the short arm of chromosome 5 (5p), 5p-syndrome was discovered in 1963 by the French geneticist J. Lejeune. The name "cat cry" syndrome refers to the most characteristic clinical sign, a high-pitched cry, similar to the meow of a cat, which usually disappears in the first years of life. The syndrome occurs as a result of complete or partial absence of the short arm of the 5th chromosome (from 35% to 55%), which is associated with de novo chromosome deletion in more than 85% of cases. In recent years, the use of genetic molecular methods has made progress in the diagnosis of CdCS. Aim - to consider various aspects of CdCS (epidemiology, clinical features, diagnostic methods, treatment and prognosis). A clinical case of Lejeune syndrome in an 8-month-old girl who was being treated in the neurology department of the "Children's Clinical Hospital No. 4, Kyiv. The girl is 8 months old. She was admitted to the neurological department with a delay in physical, stato-kinetic and mental development, hearing loss against the background of Lejeune syndrome, condition after surgery for congenital heart disease "Coarctation of the aorta". A multidisciplinary team of doctors was created. A clinical and laboratory examination was conducted and treatment was prescribed, which included drugs that stimulate the child's psychomotor and physical development. At 12.5 months, the child was holding her head, turning over and sitting on her own. She was enrolled in an early intervention program to improve her quality of life. Conclusions. Survival rates and life expectancy are high in children with Lejeune syndrome. The type of deletion, its size and location have a significant impact on the clinical features of the syndrome and on the prognosis of the patient's life. The main factor that can improve the prognosis of patients with CdCS is early diagnosis, as it allows establishing early therapeutic and preventive methods aimed at potentiating the physical and mental development. The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent of the child's parents was obtained for the research. The authors declare no conflicts of interest.