Rare cases of mucopolysaccharidosis type I in children with Hurler and Hurler-Scheie syndromes

Two rare cases of mucopolysaccharidosis (MPS) I in children are presented. In the first case, the ophthalmologist suspected a Hurler syndrome in a child aged 1 year with corneal opacities in both eyes, taking into account the unusual appearance of the child, which gradually formed over the year after birth, retarded psychic and speech development and the presence of hypoxic ischemic central nervous system injury (CNS) with hypertensive syndrome, hepatomegalia, and mitral valve prolapse. The diagnosis was confirmed by the results of a biochemical blood test, which showed a decrease in the activity of the enzyme of alpha-L-iduronidase. Genetic testing was recommended for the determination of the proband genotype. The second case was a boy S., aged 3 years and 7 months, with Hurler - Scheie syndrome. Numerous comorbidities (CNS, hypertensive syndrome, hip dysplasia, kyphosis, ambilateral inguinal hernia, etc.) combined with gradual formation of grotesque facial features by the age of eighteen months suggested that genetic testing should be taken during the second year of life. As a result, Q 70X mutation was identified in the heterozygous state and replacement therapy with Aldurazyme was prescribed. Clinical polymorphism and different severity of symptoms combined with rare occurrence was the reason why difficulties were experienced in the early identification of MPS I. Early diagnosis is very important so that the children could be timely referred to experts of the interdisciplinary center with an experience in the specific treatment, which is the most effective in the early stages of the disease. For citation: Babushkin A.E., Khusnutdinova E.G., Ryskulova E.K., Mukhametshina R.M. Rare cases of mucopolysaccharidosis type I in children with Hurler and Hurler - Scheie syndromes. Russian ophthalmological journal. 2018; 11 (1): 53-8. doi: 10.21516/2072-0076-2018-11-1-53-58 (In Russian).

мукополисахаридоз, глазные проявления, синдром Гурлер, синдром Гурлер - Шейе, альдуразим, mucopolysaccharidosis, ocular manifestation, Hurler syndrome, Hurler , Scheie syndrome, Aldurazyme