RARE HEREDITARY DISEASE - MUCOPOLYSACCHARIDOSIS TYPE I, HURLER-SCHEIE SYNDROME: CLINICAL OBSERVATION IN A 2-YEAR-OLD CHILD

Mucopolysaccharidoses (MPS) are hereditary metabolic disorders from the group of lysosomal storage diseases caused by a deficiency of enzymes involved in the cleavage reactions of glycosaminoglycans. The accumulation of glycosaminoglycans in tissues leads to multi-organ damage. Type I MPS is one of the most common types of MPS. MPS type I, Hurler–Scheie syndrome occurs with a population frequency of 1:40 000 – 1: 100 000 live newborns . The clinical picture is dominated by dysmorphic, neurological, visceral manifestations. The multisystem nature of the lesions determines the need for observation of patients by specialists of different profiles - pediatrician, neurologist, orthopedist, cardiologist, ophthalmologist, audiologist. The article presents a clinical and genetic description and analysis of a case of a rare autosomal recessive neurodegenerative disease mucopolysaccharidosis type I, Hurler-Sheye syndrome, in a 2-year-old girl. Combination of specific features of the phenotype: characteristic changes in facial features, hypertrichosis, skeletal deformities of the type of multiple dysostosis, umbilical hernia, cardiac pathology, ophthalmic pathology (corneal degeneration), neurological disorders (delayed speech development), multisystem lesion, as well as increased urinary excretion of dermatan sulfate, a decrease in the activity of alpha-iduronidase in the blood was the basis for the diagnosis: mucopolysaccharidosis type I, Hurler–Scheie syndrome. The diagnosis was confirmed by the results of molecular genetic analysis.