Lysosomal Storage disease Flashcards
(7 cards)
1
Q
Lysosomal Storage disease pathology
A
*AUtosomal recessive mostly
* Inability to rid off from waste → accumulation in tissue → Cell
death – Failure to thrive
2
Q
- Gaucher Disease clinically
A
- Hepatosplenomegaly
- Pancytopenia
- Avascular necrosis of femur (limping ,bone pain)
- Crumpled tissue paper cells “ Gaucher cells” on histology
3
Q
Tay-Sachs Disease
A
- Hexamindiase deficiency
- common among Ashkenazi Jewish
- Cherry red macula (fundoscopy )
- No hepatomegaly
- Startle reflex
- die at 4- 5 years
4
Q
Nieman Pick Disease
A
most common among ashkenazi jewish people
- Cherry Red Macula/Spot - Hepatosplenomegaly
- Laden macrophages in lipids
5
Q
Fabry disease
A
- Fabry neuropathy
- Angiokeratoma
- Hypohidrosis
(FA :
f=Fabry neuropathy:hand and legs pain ,
A=angiokeratoma =rash )
6
Q
Hurler Disease
A
- Corneal clouding
7
Q
Hunter Disease
A
No corneal clouding
