Journal Basic Info
- Impact Factor: 0.285**
- H-Index: 6
- ISSN: 2638-4558
- DOI: 10.25107/2638-4558
Major Scope
- Vascular Medicine
- Endocrinology
- Trauma
- Women’s Health Care
- Neurological Surgery
- Food Science
- Pulmonary Medicine
- Toxicology
Abstract
Citation: Clin Case Rep Int. 2020;4(1):1151.DOI: 10.25107/2638-4558.1151
Gurler Syndrome - Clinical Case
Rylova Natalya Viktorovna
Department of Hospital Pediatrics, Kazan State Medical University, Russia
*Correspondance to: Rylova Natalya Viktorovna
PDF Full Text Case Report | Open Access
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
Cite the Article:
Viktorovna RN. Gurler Syndrome - Clinical Case. Clin Case Rep Int. 2020; 4: 1151.
