Lejeune's syndrome in children: modern ideas
DOI:
https://doi.org/10.15574/SP.2025.1(145).101106Keywords:
Lejeune syndrome, Cri du Chat syndrome (CdCS), children, dysmorphisms, deletions of the short arm of the 5th chromosome, Fish-methodAbstract
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.
References
Ajitkumar A, Jamil RT, Mathai JK. (2024). Cri Du Chat Syndrome [Updated 2022 Oct 25]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. URL: https://www.ncbi.nlm.nih.gov/books/NBK482460/.
Akinpelu OV, Peleva E, Funnel WR, Daniel SJ. (2014). Otoacustic emissions in newborn hearing screening: a systematic review of the effect of different protocols on test outcomes. Int. J. Pediatr. Otorhinolaryngol. 78: 711-717. https://doi.org/10.1016/j.ijporl.2014.01.021; PMid:24613088
Collins MS, Cornish K. (2002). A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome. J. Intellect Disabil. Res. 46: 133-140. https://doi.org/10.1046/j.1365-2788.2002.00361.x; PMid:11869383
Hill C, Moller JH, Finkelstein M, Lohr J, Schimmenti L. (2006). Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the pediatric cardiac care consortium. Pediatrics. 117: 924-927. https://doi.org/10.1542/peds.2005-1012; PMid:16585274
Hope WH, Cordovez JA, Capasso JE et al. (2015). Peters anomaly in cri-du-chat syndrome. J. AAPOS. 19: 277-279. https://doi.org/10.1016/j.jaapos.2015.01.018; PMid:26059676
Kristoffersen KE. (2008). Speech and language development in cri du chat syndrome: a critical review. Clin. Linguistic Phon. 22: 443-457. https://doi.org/10.1080/02699200801892108; PMid:18484284
Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P et al. (1963). 3 cases of partial deletion of the short arm of a 5 chromosome. C. R. Hebd Seances Acad. Sci. 257: 3098-3102.
Mainard PC, Perfumo C, Calì A, Coucourde G, Pastore G, Cavani S et al. (2001). Clinical and molecular characterization of 80 patients with 5p deletion: genotype-phenotype correlation. J. Med. Genet. 38: 151-158. https://doi.org/10.1136/jmg.38.3.151; PMid:11238681 PMCid:PMC1734829
McKusick VA (ed). et al. (2023). Cri-du-chat syndrome: Medlineplus genetics. MedlinePlus. Accessed Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 123450. URL: https://medlineplus.gov/genetics/condition/cri-du-chatsyndrome/.
Medscape. (2024). Cri-du-Chat Syndrome. Updated: Mar 01, 2024. Programs & Resources RareCare Assistance Progra Last Update: 1/13/2023. URL: http://www.emedicine.com/ped/topic504.htm.
Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ. (2015, Sep). 5p deletions: Current knowledge and future directions. Am J. Med. Genet. C. Semin. Med. Genet. 169(3): 224-238. https://doi.org/10.1002/ajmg.c.31444; PMid:26235846 PMCid:PMC4736720
Takebayashi T, Obata H, Minaki Y, Sekine M, Imoto K, Yokogushi K. et al. (2006). Scoliosis in cat cry syndrome. J. Orthop. Sci. 11: 259-263. https://doi.org/10.1007/s00776-006-1019-8; PMid:16721526
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