ArticleRadiology case reports2025
Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.
Article in Radiology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
6 authors.
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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.
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