Prolonged catamnesis of a child with type I mucopolysaccharidosis, Gurler syndrome, receiving enzyme replacement therapy

Hereditary pathology makes up a significant part of the structure of childhood morbidity, disability and mortality. Mucopolysaccharidosis type I is a hereditary lysosomal accumulation disease, with an autosomal recessive type of inheritance. At birth, children with Gurler syndrome look normal, but in the future, they develop symptoms characteristic of mucopolysaccharidosis, and the first clinical manifestations of the disease are often hernias and hepatosplenomegaly. The presented clinical case demonstrates the difficulties of early diagnosis of mucopolysaccharidosis type I, which lead to a later prescription of enzyme replacement therapy and the inability to use a more effective method of therapy – hematopoietic stem cell transplantation, due to the development of serious manifestations of the cardiovascular system. While the positive effects of enzyme replacement therapy in the early stages of treatment may seem promising, it does not guarantee a favorable prognosis for the future. Conclusion. Currently, early diagnosis of mucopolysaccharidosis type I is difficult due to the lack of early manifestations. Often, the progression of clinical manifestations leads to disability, and in severe cases, to death. Therefore, it is important to have early diagnosis and appropriate treatment.