Fabry Disease: alpha-galactosidase A deficiency

Synonyms:

a.k.a. alpha-galactosidase A deficiency a.k.a. Angiokeratoma corporis diffusum

Clinical features:

Rash: Telangiectasia on lower trunk and upper legs
Peripheral neuropathy: painful
Stroke
Cardiac and renal dysfunction

Genetics:

X-linked recessive

Findings on investigations:

Leukocyte alpha-galactosidase A: low
CT: pulvinar hyperdensity (mineralization)
MRI brain:

  • Pulvinar sign T1 hyperintensity

Other tests:
Basic metabolic panel: creatinine: renal failure

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