Overview
Acid maltase deficiency (AMD), also known as Pompe disease, encompasses a spectrum of presentations including late-onset forms characterized by glycogen accumulation in tissues such as liver, skeletal muscles, and notably, cerebral arteries 12. Late-onset variants can involve severe vascular pathology leading to cerebral aneurysms and neurological complications 12.Diagnosis
Muscle biopsy: Demonstrates acid phosphatase-positive vacuoles filled with PAS-positive material 12.
Enzyme assay: Reduced acid maltase activity confirms the diagnosis 12.
Neuroimaging: CT and MRI may reveal hypodense and hyperintense white matter areas, indicative of vascular and demyelination changes 1.
Postmortem examination: Reveals vascular pathology including vacuolar degeneration and aneurysms in affected individuals 2.Management
Supportive care: Focus on managing symptoms and complications, including respiratory support and neurological care 12.
Monitoring: Regular assessment for aneurysm formation and neurological deterioration 12.
No specific pharmacological treatment mentioned: Current evidence does not specify targeted drug therapies or dosing 12.Special Populations
Neurological complications: Increased risk in late-onset forms, particularly concerning cerebral aneurysms and hemorrhages 12.
Comorbidities: Vascular fragility complicates management, especially in cases with subarachnoid hemorrhage 2.Key Recommendations
Perform muscle biopsy and enzyme assays for definitive diagnosis (Evidence: Moderate 12).
Regular neuroimaging to monitor cerebral vascular changes (Evidence: Moderate 1).
Aggressive management of neurological symptoms and vascular complications (Evidence: Expert opinion 2).References
1 Kretzschmar HA, Wagner H, Hübner G, Danek A, Witt TN, Mehraein P. Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency. Journal of the neurological sciences 1990. link90258-o)
2 Miyamoto Y, Etoh Y, Joh R, Noda K, Ohya I, Morimatsu M. Adult-onset acid maltase deficiency in siblings. Acta pathologica japonica 1985. link