Clinical review for general practice

ISSN (Print) 2713-2552
ISSN (Online) 2782-5671
  • Home
  • about
  • archives
  • contacts
left
FULLSCREEN > Archive > 2024 > Vol 5, №1 (2024) > Clinical Case A clinical case of Prader–Willi syndrome

Clinical Case A clinical case of Prader–Willi syndrome

Aleksandra V. Serezhkina , Irina G. Khmelevskaya , Natalia S. Razinkova , Tatiana A. Minenkova , Darya R. Yakovleva , Rostislav E. Gromov

For citation:


  • Abstract
  • About the Author
  • References

Abstract

Relevance. Prader–Willi syndrome (SPW) is a rare genetic disease associated with a predominant legion of the nervous system with subsequent involvement of other systems. The main signs of the syndrome part childhood hypotension, hypogonadism with hypogenitalism, morbid obesity, and impaired cognitive functions.
Goal. Presentation of a rare case with consideration of the features of the clinical picture and course of SPW. 
Materials and methods. The medical history of patient A., 10 months old, who is undergoing examination and inpatient treatment in the 3rd ward. OBUZ ODKB, as well as the materials of the Pubmed platform.
Results. The article presents a clinical case of Prader–Willi syndrome in a 10-month-old girl with the first signs in the prenatal period.
Keywords: Prader–Willi syndrome, hypotension, hyperphagia, hyperglycemia, cognitive dysfunction.

About the Author

Aleksandra V. Serezhkina 1 , Irina G. Khmelevskaya 1 , Natalia S. Razinkova 1 , Tatiana A. Minenkova 1 , Darya R. Yakovleva 1 , Rostislav E. Gromov 1

1 Kursk State Medical University, Kursk, Russia

References

1. Godler DE, Butler MG. Special Issue: Genetics of Prader–Willi syndrome. Genes (Basel). 2021;12(9):1429. DOI: 10.3390/genes12091429
2. Angulo MA, Butler MG, Cataletto ME. Prader–Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest. 2015;38(12):1249-63. DOI: 10.1007/s40618-015-0312-9
3. Butler MG. Benefits and limitations of prenatal screening for Prader–Willi syndrome. Prenat Diagn. 2017;37(1):81-94. DOI: 10.1002/pd. 4914
4. Khan MJ, Gerasimidis K, Edwards CA, Shaikh MG. Mechanisms of obesity in Prader–Willi syndrome. Pediatr Obes. 2018;13(1):3-13. DOI: 10.1111/ijpo.12177
5. Noordam C, Höybye C, Eiholzer U. Prader–Willi syndrome and hypogonadism: A Review Article. Int J Mol Sci. 2021;22(5):2705. DOI: 10.3390/ijms22052705
6. Schwartz L, Caixàs A, Dimitropoulos A et al. Behavioral features in Prader–Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium. J Neurodev Disord. 2021;13(1):25. DOI: 10.1186/s11689-021-09373-2
7. Yang-Li D, Fei-Hong L, Hui-Wen Z et al. Recommendations for the diagnosis and management of childhood Prader–Willi syndrome in China. Orphanet J Rare Dis. 2022;17(1):221. DOI: 10.1186/s13023-022-02302-z
8. Erhardt É, Molnár D. Prader–Willi Syndrome: Possibilities of Weight Gain Prevention and Treatment. Nutrients. 2022;14(9):1950. DOI: 10.3390/nu14091950
9. Diene G, Angulo M, Hale PM et al. Liraglutide for Weight Management in Children and Adolescents With Prader–Willi Syndrome and Obesity. J Clin Endocrinol Metab. 2022;108(1):4-12. DOI: 10.1210/clinem/ dgac549
10. Alves C, Franco RR. Prader–Willi syndrome: endocrine manifestations and management. Arch Endocrinol Metab. 2020;64(3):223-34.

For citation:Serezhkina A.V., Khmelevskaya I.G., Razinkova N.S., Minenkova T.A., Yakovleva D.R., Gromov R.E. A clinical case of Prader–Willi syndrome. Clinical review for general practice. 2024; 5 (1): 83–87 (In Russ.). DOI: 10.47407/kr2023.5.1.00366


All accepted articles publish licensed under a Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.

  • About
  • Editorial board
  • Ethics
  • For authors
  • Author fees
  • Peer review
  • Contacts

oa
crossref
анри


  Indexing

doaj
elibrary

Address of the Editorial Office:

127055, Moscow, s/m 37

Correspondence address:

115054, Moscow, Zhukov passage, 19, fl. 2, room XI


Managing Editor:

+7 (495) 926-29-83

id@con-med.ru