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Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case
Nadia Boujida1, Soukayna Jabour1, Khadija Elaitari1
1Radiology Department, Children's University Hospital, Rabat, Morocco.
Insights
Mucopolysaccharidosis type I (MPS I), a rare genetic disorder, causes severe developmental delays and skeletal issues. Early MRI in a child with Hurler syndrome highlighted significant brain and spine abnormalities, underscoring the need for prompt diagnosis.
Area of Science:
- Genetics and rare diseases
- Pediatric neurology
- Medical imaging
Background:
- Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder.
- It results from alpha-L-iduronidase deficiency, causing harmful glycosaminoglycan buildup.
- Hurler syndrome is a severe form of MPS I with significant clinical manifestations.
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.
