Clinical case of type 1 mucopolysaccaridosis (Guler-Scheie Syndrome) – medical history from birthday to 18 years
https://doi.org/10.24412/2311-5068-2023-11-1-52
Abstract
A clinical observation of a patient with «orphan» hereditary pathology of metabolism is presented. This clinical observation demonstrates the complexity of the diagnosis of the disease associated with the extreme rarity of mucopolysaccharidosis in the population, the polymorphism of the clinical picture. The appearance of enzyme replacement therapy improved the prognosis of the disease with its timely diagnosis.
About the Authors
L. I. Monogarova
Amur State Medical Academy of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Ljudmila I. Monogarova
Blagoveshchensk
V. V. Shamraeva
Amur State Medical Academy of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
Viktorija V. Shamraeva
Blagoveshchensk
T. L. Kolchina
Сhildren’s Сity Сlinical Hospital
Russian Federation
Russian Federation
Tat’yana L. Kolchina
Blagoveshchensk
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Review
For citations:
Monogarova L.I., Shamraeva V.V., Kolchina T.L. Clinical case of type 1 mucopolysaccaridosis (Guler-Scheie Syndrome) – medical history from birthday to 18 years. Amur Medical Journal. 2023;11(1):52-56. (In Russ.) https://doi.org/10.24412/2311-5068-2023-11-1-52
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