Lysosomal Storage Diseases

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VITAMIN DEFFICIENCY DISEASES

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Mr.Joseph:45-years-old man

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Multiple Sclerosis (MS) Pathophysiology

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Genetic Syndromes

door Patrick Teloken

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