RESUMO
Introduction and importance: Hurler syndrome, also known as mucopolysaccharidoses type I, is a rare autosomal recessive lysosomal storage disorder with decreased activities of α-L iduronidase, resulting in the accumulation of glycosaminoglycans (GAGs) within various tissues. Case presentation: The authors presented a case report of a 15-year-old male who presented with a lower respiratory tract infection and was admitted to the pediatrics department with a history of facial dysmorphism, skeletal abnormalities, and corneal clouding and below-normal cognitive function which is consistent with the Hurler-Scheie syndrome. Skeletal abnormalities include inverted j-shaped sella turcica, bullet-shaped phalanges, thoracolumbar kyphosis, and acetabular dysplasia. Clinical discussion: Mucopolysaccharidosis I is classically divided into three syndromes, that is, Hurler syndrome (the severe form), Hurler-Scheie syndrome (the intermediate form), and Scheie syndrome (the attenuated form). Most of a doctor's first diagnosis is based on their observation of the signs and symptoms. Conclusion: Early disease diagnosis, genetic counseling, and regular follow-up with recent treatment modalities can reduce mortality significantly and improve the child's health status.
