Introduction:

Hurler syndrome belongs to a group of diseases called muco polysaccharidosis and is a rare disease in pediatric age.

Patient information:

12-year-old male adolescent, product of normal delivery, who at the age of two years started with loss of speech and constant drooling. He was evaluated by the Genetics Specialist who, due to his phenotypic characteristics, suspected a possible Hurler syndrome. We present an interesting case, not commonly seen in medical practice, with the aim of informing students and health professionals about the physical characteristics of the patient, who has survived more than 10 years of life.

Conclusions:

the diagnosis was confirmed by mucopolysaccharide chromatography study performed at the National Genetics Center. Patients often die in the first decade of life due to respiratory and cardiac complications, hematopoietic precursor transplantation and enzyme therapy with alpha-L-iduronidase can improve life expectancy.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )