HURLER SYNDROME IN A YOUNG ADULT MALE: A CASE REPORT

Hurler syndrome is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by skeletal abnormalities, cognitive impairment, cardio-respiratory problems, hepatosplenomegaly, and short life span. Patients typically present within the first year of life with developmental delay along with musculoskeletal abnormalities including short stature, dysostosis multiplex (progressive skeletal dysplasia), kyphosis, and characteristic coarse facies with a large head, full cheeks, bulging frontal bones, depressed nasal bridge, anteverted nostrils, and enlarged lips. Associated abnormalities include cardiomyopathies, valvular abnormalities and hearing loss. An interesting case of a 20 years old male patient with characteristic musculoskeletal, neurological, cardiac, respiratory and visual defects consistent with findings of mucopolysaccharidosis type 1 has been presented in this case report.   

Key Words: Hurler syndrome, mucopolysaccharidosis, glycosaminoglycans.