N.V. RYLOVA¹, A.A. SHAKIROVA², A.R. KHUSAINOVA², Ch.D. KHALIULLINA¹, A.A. VOLKOVA¹, R.M. SAYFULLINA², L.D. CHEMINAVA²

¹Kazan State Medical University of the Ministry of Health of the Russian Federation, Kazan

²Children’s Republic Clinical Hospital, Kazan

 Contact:

Rylova N.V. ― MD, Professor of the Department of Hospital Pediatrics with a course of Polyclinic Pediatrics

Address: 49 Butlerov Str., Kazan, Russian Federation, 420012, tel. (843) 236-04-21, e-mail: rilovanv@mail.ru

The article presents a clinical case with the results of examination, treatment and dynamic observation of a child with type I mucopolysaccharidosis ― Hurler syndrome. The diagnosis was made at the age of 1 year 9 months based on a combination of clinical and medical history data and results of instrumental and morphological examinations. Against the background of therapy, there is a positive dynamics of clinical symptoms, confirmed by the results of laboratory and functional studies. The lack of alertness of doctors regarding this disease is one of the reasons for late diagnosis, and, as a consequence, development of complications.

Key words: mucopolysaccharidosis, Hurler syndrome.

(For citation: Rylova N.V., Shakirova A.A., Khusainova A.R., Khaliullina Ch.D., Volkova A.A., Sayfullina R.M., Cheminava L.D. Mucopolysaccharidosis type I ― Hurler syndrome. Clinical case. Practical medicine. 2020. Vol. 18, №1, P. 126-129)

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