Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case

Abstract

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by α-L-iduronidase deficiency, leading to glycosaminoglycan accumulation. We report a 7-year-old child with Hurler syndrome, presenting with growth delay, skeletal deformities, and neurodevelopmental impairment. Brain and spine MRI revealed white matter abnormalities, supratentorial cysts, odontoid dysplasia, and cervical canal stenosis. These findings reflect the multisystemic nature of MPS I and the value of early neuroimaging. Despite available therapies, neurological and skeletal complications remain a major challenge.