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