Abstract

ARIAS EULATE, Juan Carlos; ANGULO FLORES, Marcela Denisse; RUEDA MUNOZ, Zulma  and  PAZ, Ghunter. Hunter Syndrome Mucopolysaccharides (II): a Case Report. Rev Cient Cienc Méd [online]. 2011, vol.14, n.1, pp.40-42. ISSN 1817-7433.

Hunter Syndrome, is a genetic disorder that primarily affects males, due to the deficiency or absence of the enzyme iduronate-2-sulfatase, which interferes with the ability of the body break down and recyele mucopolysaccharides. The incidence is 1: 10.000 to 1:25.000 babies alive. The physical manifestations includes distinctive facial features, large head, abdomen increased thickening of heart valves, obstructive respiratory illness, delayed mental development and enlarged liver and spleen. We present the clinical case of a 7-year-old male patient with diagnosis of Hunter Syndrome six years ago, with a history of seizures in two occasions and schedules of bronchopneumonia. A physical examination presents rough fascie, brachial bicep muscle contracture, is achieved by the extension of the hands, walks with the tip of toes and presents hepato and splenomegaly. Which we treated respiratory symptoms with the use of antibiotics.

Keywords : Hunter Syndrome; Mucopolysaccharidosis II; Iduronate Sulfatase.

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