Abstract
Type I mucopolysaccharidosis is caused by an alpha-L-iduronidase deficit and has three phenotypic expressions. Hurler syndrome includes dysmorphias, hirsutism, hepatosplenomegaly, hydrocephalus, skeletal deformities, recurrent infections, heart abnormalities, and global developmental delay. Hematopoietic cell transplantation provides a continuous source of alpha-L-iduronidase throughout the body, including the central nervous system and, currently, appears to be the gold-standard therapy for this pathology. We present the case of a six-years-old child with the diagnosis of Hurler syndrome, submitted to hematopoietic cell transplantation and integrated in a structured support plan with special education, speech therapy and early home intervention, who presents a trend of convergence with the normality in all the development areas, except for locomotor skills and eye-hand coordination. These findings highlight the positive impact of the hematopoietic cell transplantation together with the early and structured intervention of a multidisciplinary team in the neurodevelopmental profile of children affected by Hurler syndrome.
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