Path

Question 1

GAUCHER’S

Answer 1

Lipodystropy .

Excess Glucocerebrosides in brain, liver, spleen.

Question 2

Krabbe’s

Answer 2

Lipodystrophy.

Excess galactocerebrosides in white matter

Question 3

Niemann Pick’s

Answer 3

Lipodystrophy.

Increase Sphingomyelinase deficiency.

Question 4

Tay Sach’s

Answer 4

Lipodystrophy.
Increase gangliosidesin brain.
Glycosphingolipid. Hexosaminidase A deficiency

Cherry spots on the Macula.
Infant death.
MC in Jews.