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Laughing Neuro > syndromes, reflexes, signs, quick recall > Flashcards

syndromes, reflexes, signs, quick recall Flashcards

1
Q

metachromatic leukodystrophy

A

arylsulfatase A

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2
Q

Fabry

A

alpha galactosidase

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3
Q

Farber

A

ceramidase

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4
Q

Gaucher

A

beta glucosidase

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5
Q

Krabbe

A

galactosyl ceramide beta galactosidase

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6
Q

Nieman Pick

A

sphingomyelinase

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7
Q

Sandhoff

A

hexosaminidase A/B (HSM)

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8
Q

Tay Sachs

A

hexosaminidase A

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9
Q

Pompe

A

acid maltase def

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10
Q

rosenthal fibers

A

Alexander disease

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11
Q

NAA high

A

Canavan

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12
Q

CPT 2 (canitine palmitoyl 2 def)

A

recurrent myoglobinuria w/ exercise

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13
Q

systemic issue with galactosemia

A

ecoli sepsis

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14
Q

glutaric acidemia

A

movement disorder in baby, bat shaped MRI

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15
Q

Lesch Nyan

A

self mutilation, HGPRT, purine metab

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16
Q

Hurler

A

alpha L iduroniase

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17
Q

Hunter

A

iduronate sulfatase

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18
Q

PLP gene, hypomyelination leukencephalopathy

A

Pelizaeus Merzbacher

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19
Q

ataxia, neuropathy, steatorrhea, retinitis pigmentosa, acanthocytosis

A

abetalipoproteinemia, Bassen-Kornzweig syndrome

(a beta: I better head to the bathroom… or look for a Basin)
BASSEN: B apolipoprotein, Acanthocytosis, Ataxia, Areflexia, vitAdef, Steatorrhea, Sensory loss, Spinocerebellar degen, Eye findings, Neuropathy

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20
Q

Infant with : macroglossia, cardiomegaly, hepatomegaly, PAS positive membrane bound vacuoles

A

Pompe’s disease

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21
Q

adult with fatigue, weakness, respiratory failure, increased CK, myotonia in paraspinal muscles, intracranial aneurysms
Dx
Muscle biopsy finding

A

Adult pompe/acid maltase deficiency

vacuolar myopathy / lysosome stain PAS

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22
Q

dystonia, athetosis, tongue thrusting, torticollis, oculogyric crisis, ptosis, autonomic dysfunction w/ apnea, hypothermia, sweating

A

AADC deficiency:

Aromatic L-amino Acid decarboxylase Deficiency

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23
Q

sudanophilic material in macrophages

A

adrenoleukodystrophy

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24
Q

genetics of neonatal adrenoleukodystrophy?

A

AR as opposed to X-linked like older forms

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25
Q

progression of demyelination in adrenoleukodystrophy

A

occipital to frontal

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26
Q

deficiency of aspartoacylase
increased NAA on MRS
macrocephaly but loss of white matter

A

canavan

Think Spartan/ living in Caravan and caNAAvan

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27
Q

seizures, developmental delay, coagulopathy, GI sx, inverted nipples, abnormal fat distribution

A

CDG 1

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28
Q

most common etiology of recurrent myoglobinuria

A

chr 1p32, CPT II deficiency

See Pee Tea with 2 much exercise (CPT 2)

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29
Q

4 month old with irritability and sleep disturbance followed by neurologic / vision sx and hearing loss and
SLOWED head growth

Treatment

A

cerebral folate deficiency

Tx w/ folinic acid (leucovorin)

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30
Q

periumbilical rash, corneal deposits, GI/renal issues, heart issues

A

Fabry

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31
Q

lipogranulomatosis, cherry red spots, subcutaneous nodules, hoarseness, joint issues

A

Farbers, lipogranulomatosis from ceramidase deficiency

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32
Q

ceramidase deficiency

A

Farbers

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33
Q

cataracts, poor feeding, HSM, E. coli sepsis

A

galactosemia

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34
Q

PAS + histiocytes containing lipid

A

Gaucher cells

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35
Q

acquired microcephaly in first few months of life, spasticity, ataxia
Dz and tx

A

Glucose Transporter Type 1 deficiency, treat with ketogenic diet

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36
Q

frontotemporal atrophy w/ prominent sylvian fissures and bat wing MRI appearance. Retinal hemorrhages and subdural effusions

A

Glutaric acidemia type 1

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37
Q

What does Glutaric acidemia type II cause (2 syndromes)

A

neonatal hypotonia, sweaty feet odor

OR

Reye-type syndrome later in life

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38
Q

hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration (HARP)
What gene?

A

PANK2 gene

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39
Q

Intermittent ataxia and nystagmus, photosensitive rash, amino acids in urine
low tryptophan

A

HARTNUP

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40
Q

progressive external ophthalmoplegia and pigmentary retinopathy, heart block, myopathy, endocrine issues

A

Kearns-Sayre Syndrome

41
Q

galactocerebroside

A

Krabbe (Globoid cell leukodystrophy)

42
Q

optic atrophy, blindness, deafness, no DTRs but upgoing toes, high CSF protein, Globoid cells PAS+ in macrophages

A

Krabbe

43
Q

putamen abnormalities on MRI and high lactate

A

Leigh syndrome

44
Q

lab finding in lesch nyhan syndrome

A

hyperuricemia and elevated urine uric acid

45
Q

big eyes, cataracts, glaucoma, blindness, OCD sx, kidney issues

A

Lowe Syndrome: OWL syndrome w/ big eyes OCRL1 gene

Oculocerebrorenal syndrome

46
Q

branched chain ketoacids are what, and elevated in what disease:

A

VIAL: Valine, Isoleucine, alloisoleucine, Leucine

MSUD

47
Q

most common disorder of fatty acid oxidation

A

MCAD: medium chain acyl-coa dehydrogenase deficiency

48
Q

hypoketotic hypoglycemia

Dz and tx

A

MCAD: medium chain acyl-coA dehydrogenase def

tx w/ carnitine and low fat diet

49
Q

very little kinky hair: what is big CNS risk?

A

Menkes: vasculopathy causing strokes or subdural hematomas

50
Q

arylsulfatase A deficiency

A

metachromatic leukodystrophy

51
Q

PNS and CNS involved - mixed UMN/LMN signs
symmetric demyelination sparing subcortical U fibers
falling and gait problems first year of life and regression

A

Late-infantile metachromatic leukodystrophy

52
Q

organic acidemia with high ammonia, ketosis, acidosis and spastic quadriparesis, ID, basal ganglia injury w/ movement disorder

A

methylmalonic acidemia

53
Q

disease with MRI showing leukodystrophy but only GI sx and PNS/polyneuropathy/weakness sx and not CNS dysfunction

A

MNGIE: mitochondrial neurogastrointestinal encephalomyopathy

54
Q

skeletal deformity that may be seen in the mucopolysaccharidoses

A

cervical cord compression/base of brain issues w/ hydrocephalus

55
Q

MPS with corneal clouding?

A

Hurler’s AR

56
Q

how do you treat holocarboxylase synthase deficiency?

What does this d/o look like?

A

biotin
looks like biotinidase def… which is also treated with the same
(both are part of the multiple carboxylase deficiency diseases)

57
Q

deafness, optic atrophy, lipomas, short stature, myopathy, neuropathy, frequent jerks
Dz and mutation

A

MERRF: tRNA lysine

Merve has lyse/lice

58
Q

palmitoyl protein thioesterase (PPT1): :what disease

A

infantile neuonal ceroid lipofuscinoses

59
Q

foamy histiocytes in liver and bone marrow

A

Niemann-Pick disease type A

60
Q

gelastic cataplexy, choreoathetosis, seizures, vertical supranuclear gaze palsy w/ problem with down gaze

What dz and caused by what

A

Niemann-Pick Disease type C due to abnl cholesterol transport

61
Q

sea blue histiocytes

A

Neimann pick type C

62
Q

hiccups and burst suppression

A

nonketotic hyperglycinemia

63
Q

hypomyelinating leukoencephalopathy and head tremor or nodding, roving eye movements/pendular nystagmus

A

Classic Pelizaeus-Merzbacher

64
Q

exercise intolerance with cramps, fatigue and myoglobinuria

No second wind

A

Tarui disease, Phosphofructokinase deficiency

65
Q

night blindness and accumulation of phytanic acid

A

Refsum disease

66
Q

retinitis pigmentosa, ataxia, anosmia, deafness, chronic hypertrophic demyelinating sensorimotor neuropathy w/ onion bulbs, ichthyosis, and diabetes, skeletal issues, cardiac issues, very high CSF protein in child

A

childhood Refsum

67
Q

deficiency of heosaminidase A and B with mild hepatosplenomegaly and coarse granulations in histiocytes in bone marrow

A

Sandhoff disease (sandbag under shirt making belly bigger) and sandy course granulations in bone marrow

68
Q

alpha neuraminidase deficiency with progressive myoclonic epilepsy and cherry red spot

A

sialidosis type 1

69
Q

Ichthyosis (dry skin), ID, spastic quadriplegia

A

Sjogren-Larsson due to decreased fatty aldehyde dehydrogenase

70
Q

seizures, sassy behavior, ataxia, developmental delay, and urine organic acids with gamma hydroxybutyric aciduria

A

SSADH: succinic semialdehyde dehydrogenase deficiency

71
Q

deficiency of alpha lipoprotein

pt with large orange tonsils, lymphadenopathy, splenomegaly, neuropathy, hand atrophy

A

Tangier disease

hold a tangerine in your hand where atrophy occurs

72
Q

hypersensitive startle, hyperacusis, progressive weakness and hyperreflexia, seizures, blindness, megalancephaly

A

Tay sachs

73
Q

ballooned neurons with foamy cytoplasm

A

tay sachs

74
Q

tay sachs vs sandhoff?

A

Tay sachs: no organomegaly
Sandhoff: hexosaminidase A and B def, Taysachs only A

(Think B causes Big liver and Big sandy Beach)

75
Q

face of giant panda on MRI

A

Wilsons

76
Q

two copper transport diseases and their differences in labs and treatment

A

Menkes: alpha subunit, low serum copper and ceruloplasmin but LOW liver copper too, so treat with Copper

Wilson’s: Beta subunit, low serum coper and ceruloplasmin but high liver copper, so chelate

77
Q

jaundice, vomiting, diarrhea, poor wt gain, adrenal calcification and insufficiency and hepatosplenomegaly in infants/young children

A

Wolman disease

78
Q

cerebro-hepato-renal syndrome

A

Zellweger

79
Q

another disease with brushfield spots and epicanthal folds, not DS

A

Zellweger syndrome

80
Q

the only x-linked sphingolipidosis

A

Fabry

81
Q

Brudzinski sign

A

meningeal sign with flexion of pts neck, legs flex at hips

82
Q

ciliospinal reflex

A

pinch neck and assess sympathetic pupil dilation

83
Q

collier sign

A

b/l upper eyelid retraction w/ dorsal midbrain lesion

“Caller” sign: paranoid from persistent caller eyes will be bugging out/widened due to fear

84
Q

kernig sign

A

when examiner flexes leg at hips and extends knee, there is back/neck pain

85
Q

Marcus gunn pupil

A

relative afferent pupillary defect: no constriction w/ light, but accomodates and consensually constricts

86
Q

myerson sign

A

can’t stop blinking when tapped over bridge of nose/glabella

87
Q

phalen’s sign

A

parestheias in median nerve with wrist flexion

88
Q

Riddoch phenomenon

A

can only see wiggling fingers, not still fingers

examiner looks Ridiculous wiggling fingers

89
Q

tinel’s sign

A

tapping produces paresthesias in median nerve

90
Q

uhthoff’s phenom

A

decreased vision with increased temp

(Under Heat The Optic n Fatigues Fast

163
Q

agenesis of corpus callosum
chorioretinal lacunae
infantile spasms

A

Aicardi

164
Q

agenesis of cerebellar vermis
cystic dilation of 4th ventricle
enlarged posterior fossa w/ elevation of tentorium

A

Dandy walker

165
Q

interstitial keratitis
notching of central incisors
nerve deafness

A

Hutchinson triad of congenital syphilis

166
Q

trismus
strabismus
opisthotonus

A

Gaucher’s disease type 2

167
Q

involuntary muscle twitching/myokymia/fascics
muscle cramps stiffness
myotonia

A

Isaac’s syndrome, neuromyotonia

168
Q

vertigo, tinnitus, hearing loss

A

menieres

169
Q

ataxia, ophthalmoparesis, areflexia

A

miller-fisher variant of GBS

170
Q

bug and antibodies assoc with miller fisher GBS

A

campylobacter jejuni, anti-GQ1b abs

171
Q

branch retinal artery occlusions
encephalopathy
hearing loss

A

Susac’s syndrome: microangiopathy of brain, retina, cochlea

Laughing Neuro (6 decks)

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