Lysosomal storage disease

Question 1

Fabry’s

Answer 1

peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

a-galactosidase; ceramide trihexoside

Question 2

Gaucher’s

Answer 2

hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages that look like crumpled tissue paper)

glucocerebrosidase; glucocerebroside

Question 3

Niemann-Pick

Answer 3

progressive neurodegeneration, hepatospelnomegaly, cherry red spot on macula, foam cells

spingomyelinase; sphingomyelin

Question 4

Tay-Sachs

Answer 4

progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, NO hepatosplenomegaly

hexosaminidase A; GM2 ganglioside

Question 5

Krabbe’s disease

Answer 5

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

galactocerebrosidase, galacetocerebroside

Question 6

metachromatic leukodystrophy

Answer 6

central and peripheral demyelination with ataxia, demention

arylsulfatase A; cerebroside sulfate

Question 7

Hurler’s syndrome

Answer 7

developmental delay, gargoylism

alpha-L-iduronidase; heparan sulfate, dermatan sulfate

Question 8

Hunter’s syndrome

Answer 8

mild Hurler’s + aggressive behavior, no corneal clouding

iduronate sulfatase; heparan sulfate, dermatan sulfate

“Hunters see clearly (no corneal clouding) and aim for the X (X-linked recessive)

Question 9

Von Gierke’s disease (Type 1)

Answer 9

glucose-6-phosphatase

severe fasting hypoglycemia
INCREASED glycogen in liver
INCREASED blood lactate
hepatomegaly

Question 10

Pompe’s disease

Answer 10

lysosomal alpha-1,4-glucosidase

cardiomegaly
systemic findings leading to early death
increased glycogen in lysosomes

“Pompe traces the Pump (heart, liver, and muscle)

Question 11

Cori’s disease

Answer 11

debranching enzyme (alpha-1,6-glucosidase)

milder form of type 1 with normal blood lactate levels

note: gluconeogenesis is intact

Question 12

McArdle’s disease

Answer 12

skeletal muscle glycogen phosphorylase

increased glycogen in muscle (but can’t break it down)
muscle gramps
myoglobinuria with strenuous exercise

Question 13

Osler-Weber-Rendu syndrome

Answer 13

teleangiectasia
recurrent epistaxis
skin discolorations
AVMs

Question 14

Neurofibromatosis type 1

Answer 14

cafe-au-lait spots
neural tumors
Lisch nodules (pigmented irus hamartomas)
skeletal disorders (ie scoliosis)
optic pathway gliomas

Question 15

Neurofibromatosis type 2

Answer 15

biolateral acoustic schwannomas

juvenile cataracts

Question 16

tuberous sclerosis

Answer 16

facial leasions (adenoma sebaceum)
ash leaf spots
cortical and retinal hamartomas
seizures
mental retardation
renal cysts 
renal angiomyolipomas
cardiac rhabdomyomas
increased incidence of astrocytomas

Question 17

von Hippel-Lindau disease

Answer 17

hemangioblasomas of retina/cerebellum/medulla

bilateral renal cell carcinomas and other tumors