Peds Neuro: Lysosomal Storage Disease

Front 1

3 LSD super-categories

Back 1

lipid storage d/o

mucopolysaccahridoses

glycoproteinoses

Front 2

2 kinds of lipid storage d/o

Back 2

sphingolipidosis

gangliosidosis

Front 3

3 sphingolipidoses

Back 3

Niemann-Pick

Gaucher

Fabry

Front 4

lesion in Niemann-Pick A is in ___ which causes ___

Back 4

acid sphingomyelinase

accumulation of sphingomyelin

Front 5

lesion in Niemann-Pick B is in ___ which causes ___

Back 5

acid sphingomyelinase

accumulation of sphingomyelin

Front 6

lesion in Niemann-Pick C is in ___ which causes ___

Back 6

NPC1

accumulation of cholesterol

Front 7

Niemann-Pick type A primarily affects ___ (2)

Back 7

CNS

viscera

Front 8

Niemann-Pick type B primarily affects ___ (3)

Back 8

CNS

viscera

lungs

Front 9

3 CNS issues in Niemann-Pick

Back 9

FTT

psychomotor retardation

cherry red spot

Front 10

visceral issues in Niemann-Pick

Back 10

hepatosplenomegaly

Front 11

Niemann-Pick may be diagnosed by ___ (2)

Back 11

enzyme assay

BM bx

Front 12

findings on BM bx for Niemann-Pick

Back 12

vacuolated histiocytes

foam cells

Front 13

vacuolated histiocytes in Niemann-Pick have ___

Back 13

lipid accumulation

Front 14

foam cells in Niemann-Pick have ___ made from ___

Back 14

lamellar bodies

sphingomyelin

Front 15

2 Niemann-Pick type C subtypes

Back 15

early onset

late onset

Front 16

early onset Niemann-Pick type C pw ___ (2) in CNS and occurs at age ___

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ataxia

vertical gaze apraxia

1-3 years

Front 17

___ is an enzyme assay for Niemann-Pick type C

it measures

Back 17

filipin test

cholesterol esterification

Front 18

5 histopath findings for Niemann-Pick type C

Back 18

vacuolated histiocytes

foam cells

neuronal ballooning

maganeurites

cerebral/cerebellar atrophy

Front 19

lesion in Gaucher is in ___ aka ___

which causes ___

Back 19

glucocerebrosidase

acid beta-glucosylceramidase

accumulation of glucocerebrosides

Front 20

Gaucher types ___ involve CNS

Back 20

2

3

Front 21

Gaucher type 1 pw ___ (2)

Back 21

hepatosplenomegaly

thrombocytopenia

Front 22

Gaucher type 2 pw ___ (2)

Back 22

hepatosplenomegaly

thrombocytopenia

spasticity

choreoathetosis

oculomotor apraxia

Front 23

Gaucher type 3 resembles ___ but with ___

Back 23

type 2

slower progression

Front 24

oculomotor apraxia in Gaucher type 2/3 is primarily for ___

Back 24

horizontal saccades

Front 25

CNS manifestations of Gaucher are most severe in ___ (2 locations)

Back 25

BG

brainstem

Front 26

histopath findings for Gaucher

Back 26

macrophages with excess glucocerebroside

Front 27

Gaucher macrophages are described as ___

they are found in ___

Back 27

wrinkled tissue paper

reticuloendothelial system

Front 28

reticuloendothelial system means ___

Back 28

liver

spleen

Front 29

tx for Gaucher types 1/2

Back 29

enzyme replacement with imiglucerase

Front 30

tx for Gaucher type 3

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BMT

Front 31

lesion in Fabry is in ___ which causes ___

Back 31

alpha-galactosidase

accumulation of ceramide trihexoside

Front 32

in Fabry, ceramide trihexoside accumulates in ___ (3)

Back 32

epithelial cells

mesenchymal cells

neurons

Front 33

first neurologic manifestation of Fabry is ___

___ may also be present

Back 33

painful small-fiber neuropathy

dysautonomia

Front 34

later neurologic manifestation of Fabry

Back 34

strokes 2/2 vasculopathy

Front 35

3 non-neurologic manifestations of Fabry

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renal failure

cardiac disease

ectoderm problems

Front 36

4 kinds of cardiac disease in Fabry

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CM

valvular

CAD

conduction d/o

Front 37

2 ectoderm problems in Fabry

Back 37

angiokeratomas

corneal deposits

Front 38

angiokeratomas in Fabry are located on ___ (2)

Back 38

lower abdomen

legs

Front 39

Fabry has ___ on LM

and ___ on EM

Back 39

birefringent lipids in lysosomes

membrane-bound lamellar deposits

Front 40

tx for Fabry

Back 40

enzyme replacement

Front 41

2 kinds of gangliosidosis

Back 41

GM1

GM2

Front 42

lesion in GM1 gangliosidosis is in ___

which causes ___

Back 42

beta-galactosidase

accumulation of gangliosides

Front 43

ganglioside accumulation in GM1 gangliosidosis occurs in ___ (2)

Back 43

brain

viscera

Front 44

GM1 gangliosidosis presents at age ___

Back 44

6 to 18 months

Front 45

GM1 gangliosidosis pw ___ (3)

Back 45

CNS symptoms

hepatosplenomegaly

dysmorphic facies

Front 46

4 CNS symptoms in GM1 gangliosidosis

Back 46

ataxia

spastic weakness

cherry red spot

psychomotor regression

Front 47

2 kinds of GM2 gangliosidosis

Back 47

Tay-Sachs

Sandhoff

Front 48

lesion in Tay-Sachs disease is in ___

which causes ___

Back 48

hexosaminidase A

accumulation of gangliosides in brain

Front 49

3 kinds of Tay-Sachs

___ is the most common

Back 49

infantile

juvenile

adult-onset

infantile

Front 50

infantile Tay-Sachs presents at age ___

Back 50

3-6 months

Front 51

Tay-Sachs pw ___ and ___ (2)

Back 51

GM1 gangliosidosis CNS sx

hyperekplexia

seizure

Front 52

infantile Tay-Sachs pts die by age ___

Back 52

5

Front 53

lesion in Sandhoff disease is ___

Back 53

hexosaminidase A and B

Front 54

Sandhoff dz pw ___ and ___

Back 54

Tay-Sachs sx

hepatosplenomegaly

Front 55

4 mucopolysaccharidoses

these correspond to ___, respectively

Back 55

Hurler

Hunter

Sanfilippo

Morquio

mucopolysaccharidosis type 1-4

Front 56

mucopolysaccharidoses all result from accumulation of ___

Back 56

glycosaminoglycans

Front 57

lesion in Hurler is in ___

which causes ___

Back 57

alpha-L-iduronidase

accumulation of dermatan sulfate and heparan sulfate

Front 58

Hurler syndrome presents by age ___

with ___ (6)

Back 58

2

MR

facial coarsening

dwarfism

corneal clouding

hepatosplenomegaly

polyarthropathy

Front 59

Hurler is diagnosed by ___ (3)

Back 59

urinary dermatan + heparan sulfate

enzyme activity

EM

Front 60

2 EM finding for Hurler syndrome

these are present in ___

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reticulogranular material in epithelial or mesenchymal cells

neurons with zebra bodies

all mucopolysaccharidoses

Front 61

lesion in Hunter syndrome is in ___ on chromosome ___

which causes ___

Back 61

iduronate sulfatase

X (but female cases reported)

accumulation of dermatan sulfate and heparan sulfate

Front 62

Hunter pw ___ but not ___, with addition of ___

Back 62

Hurler sx

corneal clouding

ivory-colored lesions on back/arms

Front 63

Hunter is diagnosed by ___ (3)

Back 63

urinary dermatan + heparan sulfate

enzyme activity

EM

Front 64

lesion in Sanfilippo syndrome is in ___

which causes ___

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1 of 4 different enzymes

accumulation of heparan sulfate

Front 65

Sanfilippo syndrome pw ___ (2)

Back 65

MR

relatively mild non-CNS manifestations

Front 66

lesion in Morquio syndrome is in ___

which results in ___

Back 66

1 of 2 enzymes

accumulation of keratan sulfate and chondroitin sulfate

Front 67

Morquio syndrome pw ___ (3)

Back 67

skeletal problems

corneal clouding

normal intelligence

Front 68

4 skeletal problems in Morquio syndrome

Back 68

dysostosis multiplex

odontoid hypoplasia

pectus carinatum

genu valgus

Front 69

1 glycoproteinosis

Back 69

sialidosis

Front 70

lesion in sialidosis is ___

Back 70

alpha-neuraminidase

Front 71

3 types of sialidosis

Back 71

type 1

type 2

neonatal

Front 72

type 1 sialidosis is aka ___

onset is at ___

Back 72

cherry-red spot myoclonus syndrome

adolesence or adulthood

Front 73

type 1 sialidosis pw ___ (3) but no ___

Back 73

cherry-red spot

myoclonic epilepsy

visual deterioration

dysmorphism

Front 74

type 2 sialidosis onset is at ___

Back 74

childhood

Front 75

type 2 sialidosis pw ___ (4)

Back 75

type 1 sx

MR

coarse facies

dysostosis

Front 76

nonatal sialidosis pw ___ (3)

Back 76

hydrops fetalis

nephrotic syndrome

death

Front 77

sialidosis is diagnosed by ___ (2)

Back 77

urinary sialic acid-containing oligosaccharides

enzyme activity