Lysosomal Storage Diseases

Corneal cloud

Hurler's syndrome

NO CC

Hunter's syndrome

Ashkenazi Jews

Most Common/Crumpled Tissue Paper

Gaucher's

Bone crises

Aseptic necrosis of femur

Cherry Red Spot on Macula

r

Progressive neurodegeneration

Hepatosplen

Niemann-Pick

Foam cells

No Hepatosplen

Tay-Sachs

Lysosomes + Onion Skin

Peripheral neuropathy

PN of hands/feet; Renal Failure; XLR

Fabry's

Optic atrophy; Globoid cells

Krabbe's Disease

Demyelination

Metachromatic leukodystrophy