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.
