Central nervous system complications in infantile forms of Pompe disease treated

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American researchers followed children with early-onset Pompe disease on long-term enzyme replacement therapy (ERT). Six of them developed severe neurological complications:

  • these complications appeared on average 12 years after the start of treatment,
  • they were responsible for epilepsy, hyperreflexia and cognitive-developmental disorders,
  • all suggestive of encephalopathy, which was consistently associated with significant white matter changes,
  • in four of the six children in the study, a true neurodevelopmental and cognitive disorder was noted, underlining the severity of the disorders and their poor prognosis.

Although not constant in children treated long-term with ERT, these complications are further evidence of the limited therapeutic impact of this treatment in this early form of Pompe disease.

 

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease. Kenney-Jung D, Korlimarla A, Spiridigliozzi GA et al. Mol Genet Metab. 2024 Feb.

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