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Syndromes Flashcards

1
Q

inheritance of malignant hyperthermia

A

auto dom

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2
Q

most commonly implicated gene in malignant hyperthermia

A

ryanodine receptor gene 19q13
but really anything that encodes a voltage dependent Ca or Na channel

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3
Q

what are ryanodine receptor mutations implicated in?

A

malignant hyperthermia
&
central core disease of muscle

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4
Q

pattern of inheritance of Fahr’s disease

A

auto dom OR auto rec :)
if auto dom, 14q has been assoc

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5
Q

what’s the other name for Wilson’s disease

A

hepatolenticular degeneration

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6
Q

mode of inheritance of wilson’s disease

A

auto recessive

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7
Q

gene in wilson’s disease

A

ATP7B on 13q14.3

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8
Q

gene in Menke’s disease

A

ATP7A

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9
Q

gene in aceruloplasminemia

A

ceruloplasmin gene on 3q23-24

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10
Q

inheritance of aceruloplasminemia

A

auto dominant

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11
Q

G-M2 gangliosidosis is a group of disorders that have XS normal ganglioside. what eponym goes with this

A

Tay-Sachs
&
Sandhoff

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12
Q

what is the defect in Tay-Sachs

A

Beta-hexosaminidase subunit A deficiency

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13
Q

mode of inheritance of G-M2 gangliosidosis

A

auto recessive

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14
Q

Tay-Sachs looks like what microscopically?

A

Ballooned cortical neurons

FFPE is PAS- but LFB+ & sudan black+
Frozen tissue is PAS+

microglia will be PAS+ no matter what

EM: membranous cytoplasmic bodies

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15
Q

what these

A

membranous cytoplasmic bodies in the gangliosidoses

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16
Q

gross finding for G-M1 gangliosidosis

A

mild gyral atrophy

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17
Q

mode of inheritance of galactosialidosis

A

auto recessive

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18
Q

issue in galactosialidosis
(like sialidosis + Fabry)

A

defective PPCA (protective protein/cathepsin A) > combined deficiency in beta-galactosidase & neuraminidase > sialyloligosaccarides accumulate in lysosomes (& urine)

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19
Q

gene in galactosialidosis

A

CTSA (gene encoding PPCA) on 20q13.1

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20
Q

what non-CNS micro manifestations can you see in galactosialidosis?

A

foam cells in bone marrow

cytoplasmic vacuolation (lymphs, hepatocytes, Kupffer cells, Schwann cells, fibroblasts, endothelial cells)

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21
Q

what is the way to dx neuronal ceroid lipofuscinosis?

A

suction rectal biopsy
cryostat sections
characteristic accumulation of autofluorescent ceroid lipofuscin
infantile is silvery, the rest are yellow

the ONE exception is CLN4/Kufs dz

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22
Q

what’s the eponym for neuronal ceroid lipofuscinosis?

A

Batten’s disease

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23
Q

which ceroid lipofuscinosis has the latest onset & survival?

A

CLN4/Kufs

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24
Q

which ceroid lipofuscinosis has the earliest onset and worst survival?

A

CLN1

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25
Q

what diseases (prob not exhaustive) show granular osmiophilic deposits on EM?

A

CADASIL
neuronal ceroid lipofuscinosis type 1 (infant)

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26
Q

what diseases (prob not exhaustive) show curvilinear bodies on EM?

A

colchicine/hydroxychloroquine induced myopathy
neuronal ceroid lipofuscinoses 2 thru 8 (late infant thru adult)

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27
Q

what diseases (prob not exhaustive) show fingerprint profiles on EM?

A

ceroid lipofuscinoses 3 thru 7 (late infant & juvenile)

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28
Q

in which Niemann-Pick subtype do you NOT see CNS abnormalities?

A

type B (this is the “visceral only” group I subtype)

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29
Q

where do you find Niemann-Pick cells?

A

mononuclear phagocyte system (LMAO) & can fill alveoli

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30
Q

which disease has “sea-blue histiocytes”?

A

Niemann-Pick (older pts with type B)

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31
Q

what clinical feature unites all the Niemann-Picks subtypes?

A

hepatosplenomegaly

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32
Q

which Niemann-Pick subtype has tangles?

A

type C

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33
Q

main issue in Gaucher’s disease

A

deficient activity of glucocerebrosidase aka glucosylceramidase (it’s the only gluco- one)
OR
a cofactor (saposin C)

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34
Q

chromosomes implicated in Gaucher’s

A

GBA1 (glucocerebrosidase aka glucosylceramide) 1q21

Prosaposin 10q21

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35
Q

heterozygous mutations in GBA increase risk of what?

A

Parkinson’s dz
dementia w/ Lewy bodies

(GBA = glucocerebrosidase aka glucosylceramidase = Gaucher’s)

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36
Q

types 2 & 3 Gaucher’s disease have a neuronopathic microscopic finding, which is what?

A

perivascular clusters of Gaucher cells in subcortical white matter and cerebellum
(Foamier than Krabbe’s globoid cells)

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37
Q

which mucopolysaccharidosis is NOT auto recessive?

A

Hunter syndrome (MPS II)

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38
Q

EM finding of mucopolysaccharidoses?

A

Zebra bodies (stacked stored material)
(not specific)

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39
Q

strikingly firm and white…white matter should make you think of what?

A

fucosidosis

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40
Q

in what 2 diseases can you see abundant Rosenthal fibers that cluster around blood vessels?

A

fucosidosis
&
Alexander disease

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41
Q

acid maltase deficiency is what eponym and what storage disease?

A

Pompe’s disease
type II glycogenosis

(The lava in PompeII MALTing faces)

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42
Q

in what forms (ages) of Pompe’s can you see neuronal glycogen storage? and where do you see it

A

infant & juvenile
NOT adult

anterior horn cells, motor cranial nerve nuclei
BG
GI tract plexuses

(It’s glycogen so it’s PAS+)

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43
Q

gene defect in Farber’s disease

A

ASAH1 gene
8p22

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44
Q

what is the issue in Farber’s disease

A

deficiency of acid ceramidase (ASAH)

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45
Q

micro & EM of Farber’s disease

A
  1. GI ganglion cell PAS+ material
  2. birefringent in polarized light
  3. EM zebra bodies & Farber bodies (bananas)
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46
Q

which syndrome has “iron fist in a velvet glove” due to firm centrum semiovale?

A

Krabbe’s globoid cell leukodystrophy

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47
Q

EM of Krabbe’s

A

globoid cells/macrophages contain curved or straight crystalloid tubular inclusions

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48
Q

what do the macrophages (or any other cell honestly) in metachromatic leukodystrophy look like on FROZEN SECTION?

A

PAS+, LFB+
brown metachromasia with acidified cresyl violet, toluidine blue, or thionine

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49
Q

what are the 3 types of EM inclusions in metachromatic leukodystrophy?

A
  1. prismatic (“herringbone” on bottom)
  2. tuffstone (looks like a mosaic)
  3. laminated (looks like a child drew zebra bodies)
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50
Q

what is getting stored in metachromatic leukodystrophy?

A

sulfatide

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51
Q

what is Zellweger cerebrohepatorenal syndrome?

A

peroxisomal storage disorder in which the peroxisomes are too few (one of many disorders that have this issue)

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52
Q

issue in Krabbe’s disease

A

galactocerebroside-beta-galactosidase deficiency

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53
Q

gene for krabbe’s

A

GALC
14q31

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54
Q

issue in metachromatic leukodystrophy (& gene)

A

aryl sulfatase A deficiency
ARSA 22q13

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55
Q

EM finding in adrenoleukodystrophy

A

lipid deposits w/ very long chain fatty acids > needle-like trilaminar bodies

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56
Q

micro of adrenoleukodystrophy in brain

A

extensive myelin loss that SPARES U-fibers
&
PAS+ macrophages in large groups

older lesions have perivascular inflammation

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57
Q

adrenal gland in adrenoleukodystrophy?

A

severely atrophic

remaining adrenocortical cells are enlarged and have striations

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58
Q

“punched out” chronic lesions in cortex devoid of neurons, resembling old infarct should make you think of what syndrome?

A

MELAS

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59
Q

what does MELAS stand for?

A

mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

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60
Q

mutation in MELAS

A

A3243G in mitochondrial tRNA (LeuUUR) gene
or T3271C in same gene

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61
Q

what part of the brain is most affected in MELAS?

A

occipital lobe

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62
Q

histo of muscle in MELAS?

A

ragged red fibers
+/- paracrystalline inclusions
too many mitochondria in endothelium & smooth muscle of BVs, so they show increased SDH (or tRNA if you have it) staining

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63
Q

what does MERRF stand for

A

myoclonic epilepsy with ragged red fibers

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64
Q

gene a/w MERRF

A

A8344G in mitochondrial tRNA(Lys)

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65
Q

all cases of MERRF have 2 things; what are they? Only SOME have a 3rd thing; why is that?

A

ALL: neurosensory hearing loss and mt myopathy with ragged red fibers

likelihood of developing myoclonic epilepsy is related to proportion of mtDNA that has the mutation

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66
Q

what disease can you get from A8344G?

A

MERRF

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67
Q

how can you tell MERRF and Leigh syndrome apart?

A

MERRF has myoclonus, seizures, and ragged red fibers; shrunken, discolored dentate nucleus; gliotic putamen

Leigh syndrome has focal, bilateral, symmetric brain lesions in BG, thalamus, and brainstem

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68
Q

which 3 mitochondrial diseases result in degeneration of the retinal ganglion cell layer of the eye, with sparing of the photoreceptors and RPE?

A

Leber’s hereditary optic neuropathy
Bilateral striatal necrosis
Multiple sclerosis-like mitochondrial disease

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69
Q

what is NARP (lol)

A

Neuropathy, ataxia, and retinitis pigmentosa

NO ragged reds; instead, lipid & glycogen in vacuoles in muscle cells

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70
Q

what is Kearns-Sayre syndrome? (we’re gonna remember 3 things and 3 things only)

A
  1. Prog external ophthalmoplegia + cardiac conduction issues
  2. Vacuolation of white matter (myelin sheaths) in brainstem > cerebellum > cerebrum
  3. Ragged red AND COX- fibers AND paracrystalline mt inclusions on EM!

remember K + S
Kardiac
eKSternal ophthalmoplegia
paraKrystalline inclusions/ragged reds
Sheaths (of myelin with vacuoles)

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71
Q

what is MNGIE?

A

myoneurogastrointestinal encephalopathy syndrome

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72
Q

what’s another name for MNGIE?

A

polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction (POLIP)

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73
Q

what organ (besides the brain) has characteristic changes in Alpers-Huttenlocher/progressive neuronal degen of childhood?

A

the Liver > essentially cirrhosis/fibrosis and microvesicular fatty or oncocytic change

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74
Q

if you see calcarine cortical lesions, what disease should you be thinking of?

A

Alpers-Huttenlocher/progressive neuronal degeneration of childhood

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75
Q

Micro findings of Alpers-Huttenlocher lesions

A
  1. superficial cortical spongiosis
  2. hypertrophic astrocytes
  3. +++neutral fat

predominantly affecting striate/visual cortex

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76
Q

clinical Huntington’s without the right genetic defect

A

Holotopistic striatal necrosis
aka
familial striatal degeneration

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77
Q

what is Hallervorden-Spatz dz?

A

neurodegeneration with brain iron accumulation-1

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78
Q

familial fatal insomnia

A

PRNP D178N w/ 129M polymorphism

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79
Q

the mnemonic is:
INAD 2PLA
(i need to play)

A

Infantile Neuro-Axonal Dystrophy
2PLA = the gene, PLA2G6
PLA also stands for Purkinjeloss + Lewytau + Axonalspheroids :)

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80
Q

the mnemonic is:
Leigh’s SNEeze PDHC’s symmetries

A

Leigh’s SNEeze = Subacute Necrotizing Encephalomyelopathy
PDHC’s = PDHC pyruvate dehydrogenase complex
symmetries = symmetrical gray-brown lesions (striatum + SN)

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81
Q

the mnemonic is:
Be Very Very Quiet

A

BVV = Brown-Vialetto-van Laere
Quiet = bilateral nerve deafness

82
Q

what’s DRPLA

A

Dentatorubral-pallidoluysian atrophy (spinocerebellar degen)

83
Q

DRPLA inheritance

84
Q

DRPLA gene/issue

A

CAG repeat expansion > polyglutamine tract in the atrophin-1 protein (ATN1 on 12p)

85
Q

DRPLA structures affected (use the letters)

A

Spinocerebellar tracts + posterior columns + superior cerebellar peduncles

neuronal apoptosis + astrocytosis in the dentatorubral and pallidoluysian systems (GPe + red nucleus + dentate + subthalamic [body of Luys])

D = dentate
R = red nucleus
P = (sPine) Posterior columns + suPerior cerebellar Peduncles + sPinocerebellar tracts
L = Luys (subthaLamic)
A = Angry that GPe doesn’t fit in this mnemonic

86
Q

genetic issue in Huntington’s

A

CAG repeat expansion within polyQ region of HTT (huntingtin) on chrom 4

87
Q

thresholds of trinucleotide repeats and manifestations of Huntington’s

A

<27 = normal (no dz)
27-35 = “intermediate” (no dz)
36-39 = “reduced penetrance” (+/- dz, later onset)
40+ = full penetrance (+ dz)
60+ = juvenile HD (Westphal, <20yo)

88
Q

the mnemonic is:
HULKenlocher

A

Alpers-Huttenlocher
Green Hulk = liver manifestations
pole-dancing = POLG1 mutation
while shooting gamma rays out his eyes = polymerase gamma + calcarine cortex affected
and punching holes in the cortex = spongiosis

89
Q

familial british dementia gene

90
Q

micro of familial british dementia

A

Bri amyloid plaques + CAA (widespread) + NFTs/tau path around CAA vessels

91
Q

clinical diffs between familial british and danish dementias

A

BOTH: ataxia + dementia
DANISH: cataracts + deafness

92
Q

micro of familial danish dementia

A

ADan amyloid in vessels but NO PLAQUES!!!!!
Still has NFTs/tau path around CAA vessels!

93
Q

gene in familial danish dementia

A

ITM2B (not same mut as British)

94
Q

Familial encephalopathy with neuroserpin inclusion bodies GENE

A

Serpin1
Ser49Pro = later onset
Ser52Arg = young, seizures

95
Q

what disease has Collins bodies?

A

familial encephalopathy with neuroserpin inclusion bodies (FENIB)

96
Q

what type of Tau do you get in Pick’s disease?

97
Q

gene in FAMILIAL Pick’s dz

A

MAPT
(but most cases are sporadic!)

98
Q

what do Pick bodies stain with?

A

silver, phospho tau (3R), ubiquitin, tubulin, and chromogranin-A

99
Q

Huntington von Sattel grading

A

caudate & GP

Grade 0-1 = grossly normal​

Grade 2= visible atrophy​

Grade 3 = flat​

Grade 4 = concave

100
Q

nucleus affected in ballismus/hemiballismus?

A

subthalamic nucleus

101
Q

gene in Friedreich’s Ataxia

A

FXN (9q)
GAA trinucleotide repeat expansion (mitochondrial iron)

very rarely d/t point mutation (auto recessive)

102
Q

what are the thresholds for Friedreich’s ataxia

A

normal: 6-34 rpts
mild: ~500
severe: ~1000

103
Q

4 sx of Friedreich’s ataxia

A
  1. Cardiomyopathy
  2. Proprioceptive ataxia
  3. Dysarthria
  4. Areflexia
    bonus: diabetes (beta cells)
104
Q

Friedreich’s ataxia has 4 MAIN affected structures (and then specific things within those). what are the 4 MAIN ones?

A
  1. Cerebellum
  2. Medulla
  3. Spinal cord
  4. Peripheral nerves
105
Q

Friedreich: what 3 parts of the SC are affected?

A

they’re a circuit
(peripheral) > afferent >
1. posterior columns (gracile > cuneate)
2. Clarke’s column loses neurons
3. distal degen of pyramidal and spinocerebellar tracts

106
Q

Friedreich: what 3 things in the medulla are affected?

A
  1. Accessory cuneate/gracile nuclei (tract degen/neuron loss)
  2. Vestibular/cochlear nuclei (balance)
  3. Superior olives (inferior olives are usu normal)
107
Q

Friedreich: what 2 main things in the cerebellum are affected?

A
  1. Dentate (severe cell loss)
  2. Superior cerebellar peduncle (atrophy)
108
Q

Friedreich: what 2 things are affected in peripheral nerves?

A
  1. DRG ganglion cell loss
  2. Depletion of large myelinated axons (posterior roots & sensory nerves) (same thing happens in optic nerves/tracts but less severe)
109
Q

which disease looks like Friedreich’s clinically but has an alpha-tocopherol transfer protein defect?

A

cerebellar ataxia with isolated vitamin E deficiency

110
Q

gene: mitochondrial recessive ataxia syndrome

A

POLG
nuclear-encoded mitochondrial DNA polymerase gamma

(POLG1 is also the gene in Alpers-Huttenlocher)

111
Q

what 2 tissue types does mitochondrial recessive ataxia syndrome affect?

A

peripheral nerve
skeletal muscle
(mtDNA depletion)

112
Q

what are the 2 clinical mitochondrial recessive ataxia syndromes?

A
  1. SpinoCerebellar Ataxia with Epilepsy (SCAE)
  2. Sensory Ataxia linked to peripheral Neuropathy with Dysarthria and Ophthalmoplegia (SANDO)
113
Q

what’s the main diff btwn SCAE and SANDO

A

SCAE is in kids
SANDO is in adults
(cause I didn’t like sandwiches as a kid)

114
Q

Gene & mode of inheritance: ataxia telangiectasia

A

ATM (DNA breakage repair deficiency)
auto recessive

115
Q

clinical features of ataxia telangiectasia (5)

A
  1. Cerebellar ataxia
  2. oculocutaneous telangiectasias
  3. recurrent infxn (cell & humoral immunity)
  4. increased risk of leukemia/lymphoma
  5. increased sensitivity to ionizing radiation
116
Q

gene: autosomal dominant cerebellar ataxia (SCA)

A

ataxin CAG repeats
(same thing as Huntington’s)
the repeats are part of an exon

117
Q

how can you use IHC to identify DRPLA?

A

ubiquitin or an antibody to expanded polyglutamine stretches

neurons in pons, dentate, Luys/subthalamic, and cortex will have intranuclear or cytoplasmic (skein-like) inclusions (i guess it’s atrophin?)

118
Q

how many repeats of the triplet repeat expansion manifest in DRPLA?

A

CAG triplet repeat expansion in ATN1
normal: 7-23
dz: 49-75

119
Q

clinical DRPLA

A
  1. ataxia
  2. chorea
  3. epilepsy (myoclonic)
  4. dementia (AD)
120
Q

gene: fragile-X tremor/ataxia syndrome

A

CGG trinucleotide repeat in FMR1 on X resulting in LoF of FMRP
(> methylation > silenced)

rarely can be FMRP del or point mutation

121
Q

how many repeats of the triplet repeat expansion manifest in fragile-x tremor/ataxia syndrome?

A

normal: <45
late: 55-200 (most common)
childhood: >200

122
Q

inheritance: fragile-X tremor/ataxia syndrome

A

X-linked dominant

women are less commonly affected, but may instead get fragile-x assoc primary ovarian insuff (FXPOI) bc they have the other X to compensate

123
Q

clinical features (big 2) of fragile-x tremor/ataxia syndrome

A
  1. intention tremor
  2. ataxia (gait)

and like, all the fragile X facies

124
Q

radiological hallmark of fragile x tremor/ataxia syndrome

A

increased T2 FLAIR in middle cerebellar peduncles (or in women, splenium of CC)

125
Q

1 gross and 2 histo findings in fragile x tremor/ataxia syndrome

A

Gross: focal white matter lesions (tiny)

Histo: ubiquitinated intranuclear inclusion bodies (cortex, BG, thalamus, midbrain, medulla) & XS iron

126
Q

what’s the sporadic ataxia syndrome that is a dx of exclusion and is stupid?

A

sporadic adult-onset ataxia of unknown etiology aka midline cerebellar syndrome

no inclusions :)

thanks, i hate it

127
Q

gene in neuroacanthocytosis

A

there’s 2
VPS13A (choreo-acanthocytosis)
XK (X-linked, Kell)

128
Q

what’s the clinical of McLeod neuroacanthocytosis?

A

Kell variant Kx
Striatal degeneration
Myopathy

129
Q

inheritance of McLeod neuroacanthocytosis?

130
Q

gene in primary torsion dystonia

131
Q

gene in X-linked dystonia-parkinsonism/Lubag

132
Q

gene in segawa syndrome

A

GTP cyclohydrolase I

133
Q

inheritance of primary torsion dystonia & population

A

auto dom
Ashkenazi

134
Q

population of x-linked dystonia-parkinsonism

135
Q

inheritance of segawa syndrome

136
Q

population & presentation for pure thalamic atrophy

A

pop: young adults

behavioral disturb, memory issues, akinetic rigidity/ataxia/chorea

137
Q

chordoid meningioma is a/w what disease?

A

Castleman disease

138
Q

4R tauopathies

A

PSP
CBD
GGT
AGD
FTLD-tau-4R

mostly 3 letter acronyms

139
Q

3R tauopathies

A

FTLD
Pick

all 4 letter

140
Q

CADASIL gene

A

NOTCH3 (chr 19)

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy

141
Q

CARASIL gene

A

HTRA1 (chr 10)

Cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy

142
Q

CARASIL clinical

A

backache
baldness
brain attack (stepwise cognitive decline d/t infarcts)

143
Q

oculopharyngeal muscular dystrophy genetic issue

A

GCG trinucleotide repeat in PABP1 gene
AUTO DOM!!!

144
Q

Hereditary sensory neuropathy type 1
Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Synthesis
None
Serine palmitoyl CoA Transferase 1
SPTLC1

145
Q

Hereditary sensory and autonomic neuropathy type 1

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Synthesis
None
Serine palmitoyl-CoA transferase 2
SPTCL2

146
Q

Spastic paraplegia

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Synthesis
None
Fatty acid 2 hydroxylase
FA2H

147
Q

Myoclonic epilepsy

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Synthesis
None
Ceramide synthase 1
CERS1

148
Q

Salt & pepper developmental regression syndrome

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Synthesis
None
GM3 synthase
ST3GALS

149
Q

Spastic paraplegia but later in the pathway

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Synthesis
None
GM2 synthase
B4GALNT1

150
Q

GM1 gangliosidosis

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
GM1 ganglioside
Beta-galactosidase
GLB1

151
Q

GM2 gangliosidosis/Tay-Sachs

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
GM2 ganglioside
Beta-hexosaminidase subunit alpha
HEXA

152
Q

GM2 gangliosidosis/Sandhoff

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
GM2 ganglioside
Beta-hexosaminidase subunit beta
HEXB

153
Q

Sialidosis

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
Sialic acid storage material (lol)
N-acetyl-alpha-neuraminidase-1
NEU1

154
Q

Fabry

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
Gb3, LysoGb3
Alpha-galactosidase A
GLA

155
Q

Gaucher

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
Glucosylceramide + glucosylsphingosine
Glucosylceramidase
GBA1

156
Q

Metachromatic leukodystrophy

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
Sulfatide
Arylsulfatase A
ARSA

157
Q

Krabbe/globoid cell leukodystrophy

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
Galactosylceramide + galactosylsphingosine
Galactosylceramidase
GALC

158
Q

Niemann-Pick (type A and/or B)

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
Sphingomyelin
Sphingomyelinase
SMPD1

159
Q

Farber disease

Part of sphingolipid metabolism
Storage material
Defect
Gene

A

Catabolism
Ceramide
Acid ceramidase
ASAH

160
Q

Leigh syndrome gene

161
Q

NF1 vs NF2
which one has neurofibromas

162
Q

NF1 gene

A

NF1 on chr 17

163
Q

2 main types of neoplasms in NF1

A

dermal neurofibromas (acquired)

plexiform neurofibromas (congenital: week 2 of gestation)

164
Q

what are the eye manifestations of NF1

A
  1. optic glioma
  2. Lisch nodules (melanocytic iris hamartomas)
  3. choroidal plaques (dendritic melanocytes)
165
Q

what disease shares cutaneous manifestations with NF1 and complicates diagnosis sometimes?

A

Legius syndrome (SPRED1)

166
Q

NF1 vs NF2
which one has schwannomas

167
Q

NF1 vs NF2
which one has meningiomas

168
Q

NF1 vs NF2
which one has ependymomas

169
Q

NF1 vs NF2
which one has gliomas

170
Q

what are the eye manifestations of NF2

A
  1. posterior cataract
  2. retinal hamartomas
  3. epiretinal membrane
171
Q

what is the PATHOGNOMONIC histo finding for NF2?

A

glial micro hamartomas

172
Q

what finding can be seen in BOTH NF1 and NF2?

A

cafe au lait spots

(ALSO constitutional mismatch repair defect)

173
Q

NF1 vs NF2
which one has cutaneous plexiform schwannomas

A

NF2

(NOT plexiform neurofibromas! those are in NF1!)

174
Q

what is the clinical feature that can be helpful in differentiating NF2 from schwannomatosis?

A

schwannomatosis is a/w PAIN

175
Q

genes a/w schwannomatosis

A
  1. SMARCB1 (22q)
  2. LZTR1 (22q)
  3. Loss of heterozygosity of 22q (mutation unknown)
176
Q

what’s the 4 hit hypothesis?

A

schwannomatosis
1. germline SCHW gene mutation
2. LoH of 22q which results in #3
3. Loss of 2nd SCHW allele + loss of NF2
4. somatic mutation of remaining 2nd NF2 allele

NOT an NF2 germline mutation! bc that’s NF2!

177
Q

which collision/combo tumor is NOT a/w NF?

A

schwannoma/perineurioma

178
Q

if you see a choroid plexus carcinoma, what syndrome should you think of?

A

Li Fraumeni

179
Q

If you see childhood adrenocortical carcinoma, what syndrome should you think of?

A

Li Fraumeni

180
Q

if you see medulloblastoma, SHH-activated & TP53-mut, what syndrome should you think of?

A

Li Fraumeni

181
Q

if you see a brain tumor with a “bunch of grapes” appearance on radiology, what should you think of?

A

desmoplastic nodular medulloblastoma

182
Q

SHH-activated medulloblastoma has what IHC positivity?

A

GAB1+
YAP1+
no nuclear beta-catenin

183
Q

WNT-activated medulloblastoma has what IHC positivity?

A

nuclear beta-catenin+
GAB1-
YAP1+

184
Q

non-wnt/non-shh medulloblastoma has what IHC positivity?

A

GAB1-
YAP1-
no nuclear beta-catenin

185
Q

what type of medulloblastoma is a/w Gorlin/nevoid BCC syndrome?

A

“extensively nodular”/desmoplastic
SHH-activated & TP53-wt

186
Q

what is the gene a/w medullo in Gorlin?

A

germline SUFU mutation
PTCH1 is more common overall, but SUFU more frequently gets medullo

187
Q

what is the tumor syndrome a/w ATRT?

A

rhabdoid tumor predisposition syndrome (RTPS)

188
Q

what is the IHC surrogate for RTPS1?

A

INI1
(SMARCB1)

189
Q

What is the IHC surrogate for RTPS2?

A

BRG1
(SMARCA4)

190
Q

what is the gene a/w Carney complex?

191
Q

what syndromes is primary intracranial sarcoma a/w?

A

DICER1 syndrome
NF1

192
Q

in what ways does DICER1-associated sarcoma mimic astrocytic neoplasms?

A
  1. ATRX loss
  2. p53 overexpression
  3. H3K27me3 loss
  4. focal infiltration
193
Q

what is the MOST COMMON CNS manifestation of DICER1 syndrome?

A

metastatic pleuropulmonary blastoma

194
Q

if you see a high-grade giant cell neoplasm in a kid, what stains should you order?

A

(besides regular astrocytoma stains)

mismatch repair proteins
PMS2/MLH1/MSH2/MSH6

195
Q

what stain should you use if you think something is choroid plexus-related?

A

transthyretin

196
Q

if your ddx is ANNUBP vs MPNST and you order an H3K27me3 stain, what should you call it if H3K27me3 is LOST?

197
Q

what is the familial genetic association w/ clear cell meningiomas?

A

SMARCE1 (homozygous inactivation)
so IHC will be NEG if SMARCE1 is inactivated

198
Q

what is the typical presentation of the familial syndrome a/w clear cell meningiomas?

A

multiple spinal meningiomas (SMARCE1)

200
Q

What are these

A

Büngner bands
Schwann cells without an axon

Neuropath (6 decks)

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