Клинический разбор в общей медицине (Jan 2024)

Clinical Case A clinical case of Prader–Willi syndrome

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

DOI
https://doi.org/10.47407/kr2023.5.1.00366
Journal volume & issue
Vol. 5, no. 1
pp. 83 – 87

Abstract

Read online

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