Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.

What was studied

This review looked at tissue findings in the nervous system in classic infantile Pompe disease. This is the most severe form of Pompe disease. It involves the central nervous system. The authors searched several databases up to December 2025. They chose articles with tissue exams. 39 articles were included. They covered 49 patients. 7 had enzyme replacement therapy.

What they found

Median age at autopsy was 6 months in untreated patients. It was 12 months in treated patients. Tissue changes were found across the central nervous system. White matter, globus pallidus and dentate nucleus were often affected. Glycogen buildup was marked in astrocytes. It was also marked in neurons of the globus pallidus. Subcortical areas were involved more often than cortical ones.

What it means for patients

The authors say studies up to 21 months show early, widespread nerve system disease. They note a gap between early tissue changes and later signs. They say the disease seems to evolve gradually.

Why it is not certain yet

Links between tissue and symptoms are limited. How glycogen links to nerve symptoms is not clear. The authors say these findings give rise to several hypotheses. The data come from other studies. New data may change the picture.

Source

Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.

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