Clin Case Rep Int | Volume 4, Issue 1 | Case Report | Open Access

Gurler Syndrome - Clinical Case

Rylova Natalya Viktorovna*

Department of Hospital Pediatrics, Kazan State Medical University, Russia

*Correspondance to: Rylova Natalya Viktorovna 

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Abstract

The article presents a clinical case with the results of examination, treatment and dynamic observation of a child with type I mucopolysaccharidosis. Hurler's Syndrome the diagnosis was established at the age of: 1 year 9 months on the basis of a combination of clinical and medical history data and the results of laboratory and instrumental 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 the late diagnosis, and, as a consequence, the formation of complications.

Keywords:

Mucopolysaccharidosis; Hurler’s syndrome; Glycosaminoglycans

Citation:

Viktorovna RN. Gurler Syndrome - Clinical Case. Clin Case Rep Int. 2020; 4: 1151.

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