General description

Fabry disease is caused by a deficiency in α-galactosidase activity, leading to the accumulation of its substrate, globotriaosylceramide, in various tissues, including vascular endothelial cells, sweat glands, kidneys, smooth muscle cells, myocardium, the nervous system, and corneas. This accumulation results in complications such as renal damage, cerebrovascular disease, ischemic heart disease, cardiomyopathy, and corneal opacity. Although it is an X-linked recessive disorder, heterozygous females can also be affected.

In the early stages of Fabry disease, patients may develop angiokeratoma, extremity pain, reduced sweating, decreased tear and saliva production, intestinal peristalsis failure, and hearing loss. In the later stages, complications such as heart failure, arrhythmia, renal dysfunction, and cerebral infarction may occur.

Radiographic features

The MRI findings and clinical descriptions indicate a vascular disease with multiple neurovascular complications affecting the central nervous system. MRI (T2-weighted and FLAIR) shows high-signal areas in the cerebral white matter and basal ganglia, consistent with multiple lacunar infarcts, along with cerebral atrophy and a dilated, tortuous basilar artery.