Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Mucopolysaccharidosis (MPS) type I is a rare lysosomal storage disorder characterized by glycosaminoglycan (GAG) accumulation.
• Neurological complications in MPS I commonly include hydrocephalus, spinal cord compression, and cognitive decline.

Observation:

• Stroke is an under-recognized neurological manifestation of MPS I.
• A child with MPS I presented with stroke, severe ventriculomegaly, infarction, and bilateral terminal carotid artery stenosis.
• Intracranial pressure evaluation ruled out hydrocephalus.

Findings:

• Cerebral arteriopathy in MPS I may be linked to GAG accumulation in cerebrovascular system, predisposing to recurrent strokes.
• Cerebral revascularization was a safe and effective treatment, preventing further neurological events or ischemia over 3 years.

Implications:

• This case suggests cerebral revascularization as a potential management strategy for stroke in MPS I patients.
• Further research is needed to understand the etiology of cerebrovascular arteriopathy in MPS I.
• Inclusion of stroke evaluation and management in MPS I guidelines is warranted.