AR + X-linked lysosomal storage diseases

Question 1

X-linked

deficient α-galactosidase →↑ ceramide trihexoside

Answer 1

Fabry disease

Question 2

early childhood pain: damage to peripheral nerves associated with peripheral neuropathy (hands, feet)
abdominal pain: lipid accumulation in GI blood vessels → ischemia
renal failure
HTN
cardiomyopathy
angiokeratomas (painless papules, low ab/buttocks/groin)

Answer 2

Fabry disease

Question 3

angiokeratomas painless papules, low ab/buttocks/groin)

renal failure

Answer 3

Fabry disease

Question 4

most common lysosomal disorder

Answer 4

Gaucher disease

Question 5

glucocerebrosidase deficiency→ ↑ glucoerebroside (lipid-like, builds up in macrophages, spleen, liver, kidneys, lungs, BM)

Answer 5

Gaucher disease

Question 6

hepatosplenomegaly
painful bony lesions
anemia
fatigue
thrombocytopenia (due to large spleen)
macrophages have cytoplasmic, lipid-laden blue fibrils

Answer 6

Gaucher disease

Question 7

macrophages with “crumpled tissue paper” cytoplasm

Answer 7

Gaucher cells - Gaucher disease

Question 8

sphingomyelinase deficiency →↑ sphingomyelin (lipid-like)

Answer 8

Niemann-Pick disease

Question 9

HEPATOSPLENOMEGALY
thrombocytopenia
lot of CNS accumulation: 
ataxia
dysarthria
dysphagia
worsening intellectual function
"cherry red" spots on macula
foam cells

Answer 9

Niemann-Pick disease

Question 10

“cherry-red” spots on macula

Answer 10

Niemann-Pick disease: accumulation of substrate in cell layers of retina around the macula
OR tay sachs disease

Question 11

foam cells (lipid-laden macrophages)

Answer 11

Niemann-Pick disease

small vacuoles → cyto looks foamy

Question 12

hexosaminidase A →↑ GM2 ganglioside

Answer 12

tay sachs disease

Question 13

progressive worsening of mental and physical abilities around 6 mo (for infantile type)
death by 4 years
less severe: onset later
"cherry red" spot on macula
NO HEPATOSPLENOMEGALY (not NPD)

Answer 13

tay sachs disease

Question 14

galactocerebrosidase →↑galactocerbroside

Answer 14

Krabbe disease

Question 15

affects myelin sheaths:
peripheral neuropathy
seizures
optic atrophy
weakness
developmental delay
onset: 3-6 mo
death before 2 yo

Answer 15

Krabbe disease

Question 16

arylsulfatase →↑ cerebroside sulfate

Answer 16

metochromatic leukodystrophy

Question 17

affects myelin sheaths (similar to Krabbe):
muscle wasting
weakness
progressive vision loss
dementia
onset: >1 yo

Answer 17

metochromatic leukodystrophy

Question 18

α-L-iduronidase →↑ heparin sulfate and dermatan sulfate

Answer 18

Hurler syndrome

Question 19

progressive deterioration
coarse facial features
hepatosplenomegaly
ID
short (like dwarfism)
corneal clouding → visual loss
onset: 6 mo

Answer 19

Hurler syndrome

Question 20

corneal clouding

Answer 20

Hurler syndrome

Question 21

X-linked

iduronate sulfatase→↑heparin sulfate, dermatan sulfate

Answer 21

Hunter syndrome

Question 22

2 x-linked lysosomal storage diseases

Answer 22

Fabry disease

Hunter disease

Question 23

milder form of Hurler
later onset: 1-2 yo
NO CORNEAL CLOUDING
MORE aggressive behavior

Answer 23

Hunter syndrome

Question 24

optic atrophy

Answer 24

krabbe disease

Question 25

LSD with accumulation of dermatan sulfate

Answer 25

Hurler disease

Hunter syndrome