Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report

Area of Science:

• Neurology
• Genetics
• Rare Diseases

Background:

• Pompe disease is a rare, inherited disorder caused by acid maltase deficiency, affecting cardiac, respiratory, and skeletal muscles.
• It presents in infantile and late-onset forms, with late-onset primarily manifesting as skeletal muscle weakness.
• Emerging evidence suggests potential central nervous system involvement in some late-onset Pompe disease patients.

Observation:

• This report details a unique case of a female patient with adolescent-onset Pompe disease.
• The patient was later diagnosed with a complex intracranial aneurysm in adulthood.
• This presentation is unusual as central nervous system manifestations are not typically highlighted in late-onset Pompe disease.

Findings:

• The case demonstrates a potential association between Pompe disease and intracranial aneurysms.
• It expands the understanding of the potential neurological complications of late-onset Pompe disease.
• This highlights the importance of considering broader neurological assessments in Pompe patients.

Implications:

• This case underscores the need for further research into the central nervous system manifestations of Pompe disease.
• It suggests that patients with Pompe disease may require comprehensive neurological monitoring, including screening for vascular abnormalities.
• Understanding these associations can lead to improved diagnostic strategies and patient management for rare genetic muscle disorders.