[Neurological aspects of Fabry's disease]

Area of Science:

• Genetics
• Metabolic Disorders
• Neurology

Background:

• Fabry disease is a rare X-linked lysosomal storage disorder.
• It stems from deficient alpha-galactosidase A activity, leading to glycosphingolipid accumulation.
• This accumulation causes multi-systemic manifestations, including neurological, renal, and cardiac issues.

Purpose of the Study:

• To summarize the key dermatological, ocular, renal, cardiac, and neurological manifestations of Fabry disease.
• To explore the underlying mechanisms of central nervous system involvement, including cerebrovascular events.
• To highlight diagnostic findings such as MRI abnormalities and potential specific markers like pulvinar calcifications.

Main Methods:

• Literature review of Fabry disease manifestations and pathophysiology.
• Analysis of clinical presentation, including early-onset neuropathic pain and small nerve fiber involvement.
• Review of neuroimaging techniques (MRI, PET) for detecting central nervous system lesions and altered cerebral blood flow.

Main Results:

• Peripheral nerve and small nerve fiber involvement are early indicators, explaining normal electroneuromyography.
• Central nervous system involvement primarily manifests as cerebrovascular events, often affecting posterior circulation.
• MRI reveals silent lesions and pulvinar calcifications, while PET shows reduced cerebral flow velocity and impaired autoregulation.

Conclusions:

• Fabry disease presents with diverse systemic symptoms, notably early neurological signs.
• Understanding the pathophysiology of cerebrovascular events is crucial for managing Fabry disease.
• Advanced imaging techniques aid in diagnosis and monitoring, emphasizing the need for careful enzyme replacement therapy management.