Storage Disease Seen In Peads

Question 1

What are the lysosomal storage diseases

Answer 1

Gaucher disease - most common lipid storage disease !
Tay sachs disease
Nieman pick disease
Fabry disease
Krabbe disease
Metachromatic disease

Question 2

Gaucher disease patho physiology

Answer 2

Glucocerberosdiase deposition in the brain liver and spleen

Question 3

Clinical features of gaucher disease

Answer 3

Hepatosplenomegaly
Aseptic necrosis of femur
Motor skills deterioration , seizures
Yellow spots in the eye

Question 4

X

Answer 4

X

Question 5

X

Answer 5

X

Question 6

X

Answer 6

X

Question 7

X

Answer 7

X

Question 8

What is the patho physiology of tay sach disease

Answer 8

Accumulation of ganglioside within lysosomes

Question 9

Key features of tay sach disease ?

Answer 9

Developmental delay - psychomotor retardation

Seizures - Myoclonic

CHERRY RED SPOT ON MACULA -same is nieman Pick

HOWEVER NO HEPATOSPLENOMEGALY.

Question 10

X

Answer 10

X

Question 11

X

Answer 11

X

Question 12

X

Answer 12

X

Question 13

X

Answer 13

X

Question 14

What are the key features of Neiman pick disease

Answer 14

HEPATOSPLENOMEGALY
CHERRY RED SPOT on macula

Question 15

X

Answer 15

X

Question 16

X

Answer 16

X

Question 17

X

Answer 17

X

Question 18

Fabry disease is a disorder of lysosomal storage and deficiency of

Answer 18

alpha-galactosidase A

Question 19

inheritance of fabry disease ?

Answer 19

X-linked recessive

Question 20

What are the clinical feature of fabry disease

Answer 20

Later onset in childhood

angiokeratomas - acute pain episodes in the peripheries

Acroparathesia - Peripheral neuropathy -

Corneal blurring / opacity

hypohydrosis -no sweating

Renal failure -proteinuria

early cardiovascular disease

Question 21

X

Answer 21

X

Question 22

X

Answer 22

X

Question 23

X

Answer 23

X

Question 24

X

Answer 24

X

Question 25

Patho physiology of krabbe disease

Answer 25

Earlier onset in childhood - realise than 3 years old
Progressive demyelination

Question 26

What are the key points of krabee disease ?

Answer 26

Peripheral neuropathy
Optic atrophy
Globoid cells

Progressive demyelination leads to death by resp arrest

Question 27

X

Answer 27

Z

Question 28

D

Answer 28

X

Question 29

F

Answer 29

D

Question 30

F

Answer 30

C

Question 31

C

Question 32

What are the key points of metachromatic leukodystrophy

Answer 32

Demyelination of the peripheral and central nervous system