Lysosomal Storage Diseases

Honelako gehiago

Primary Progressive Multiple Sclerosis

Danica Sanchez‑k egina

VITAMIN DEFFICIENCY DISEASES

uppalapati dhanush‑k egina

Mr.Joseph:45-years-old man

Suthakaran Arumugam‑k egina

Genetic Syndromes

Patrick Teloken‑k egina

Lysosomal Storage Diseases

Demyelination

Metachromatic leukodystrophy

Peripheral neuropathy

Optic atrophy; Globoid cells

Krabbe's Disease

PN of hands/feet; Renal Failure; XLR

Fabry's

Ashkenazi Jews

Cherry Red Spot on Macula

Progressive neurodegeneration

No Hepatosplen

Tay-Sachs

Lysosomes + Onion Skin

Hepatosplen

Niemann-Pick

Foam cells

Most Common/Crumpled Tissue Paper

Gaucher's

Aseptic necrosis of femur

Bone crises

NO CC

Hunter's syndrome

Corneal cloud

Hurler's syndrome