Classic infantile Pompe disease impacts the central nervous system significantly, revealing distinct histologic abnormalities such as glycogen accumulation and neuronal involvement upon autopsy, according to a systematic review published on PubMed Central (pmc.ncbi.nlm.nih.gov). Researchers examining acid alpha-glucosidase deficiency found that neuropathological changes extend beyond peripheral tissues, affecting brain structures in infants who exhibit hypertrophic cardiomyopathy and symptom onset before one year of age.
Neurological Toll of Classic Infantile Pompe Disease Revealed
Database Screening and PRISMA Methodology
To evaluate central nervous system involvement, investigators conducted a systematic review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, as detailed on PubMed Central (pmc.ncbi.nlm.nih.gov). Reviewers systematically searched Embase, Medline Ovid, Web of Science, and the Cochrane Central databases using specific terms including “Pompe disease,” “acid alpha-glucosidase deficiency,” “acid maltase deficiency,” and “glycogen storage disease type II.” An independent title and abstract screening by reviewers JvdD and JMPvdH identified eligible studies, with subsequent full-text screening and data extraction verified by JD.
Studies met inclusion criteria if they reported histological examination of the central nervous system in patients diagnosed with classic infantile Pompe disease through deficient enzyme activity or early symptom onset coupled with hypertrophic cardiomyopathy. Researchers excluded non-English, French, German, or Dutch publications, review articles, conference abstracts, studies with unavailable full texts, and those lacking well-defined diagnostic criteria.
Autopsy Reports and Semi-Quantitative Scoring
Autopsy reports gathered during the review provided brain weight, fixation methods, staining techniques, and detailed histological descriptions evaluated via a standardized semi-quantitative scoring system. According to PubMed Central (pmc.ncbi.nlm.nih.gov), the scoring scale ranged from 0, representing no involvement, to 3, indicating severe involvement based on original author terminology. Classifications accounted for glycogen accumulation, gliosis, neuronal loss, and myelin loss across various anatomical regions without weighting individual features.
Mitigating Bias in Neuropathological Mapping
To minimize bias, researchers calculated average severity scores only for regions described in autopsy reports of at least six subjects. Reviewer JD performed the severity scoring, while JMPvdH reviewed the extracted data and assigned scores for consistency. This structured approach allowed investigators to map out the distribution and severity of central nervous system pathology in infants affected by this severe glycogen storage disorder.
Clinical Horizons Beyond Muscle and Cardiac Tissue
Understanding the neuropathological scope of classic infantile Pompe disease addresses critical questions regarding disease progression beyond skeletal muscle and cardiac tissue. The systematic review data published on PubMed Central (pmc.ncbi.nlm.nih.gov) provides a foundational framework for clinicians and researchers studying how acid maltase deficiency impacts neurological structures during early development.
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