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Neuro online course > Child Neuro / Genetic disorders > Flashcards

Child Neuro / Genetic disorders Flashcards

0
Q

anencephaly is due to what brain defect and when does it occur?

A

24 days gestation, failure of anterior neural tube closure

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1
Q

What visual function is present at birth?

A

black/white vision

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2
Q

myeloschisis is what, when does it occur?

A

failure of posterior neural tube closure. Neural structures protrude and expose spinal cord

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3
Q

encephalocele is due to what problem, what is the defect?

A

failure of anterior neural tube closure; intracranial contents herniate through midline skull defect

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4
Q

what lab test might be elevated in encephalocele?

A

elevated alpha-fetoprotein

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5
Q

What syndromes may have encephalocele?

A

Meckel-Gruber syndrome

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6
Q

What is Meckel’s syndromle?

A 
Microcephaly
Encephalocele
Cleft lip
Kidneys polycystic
Eyes small: microphthalmia
Lots of fingers: polydactyly
Sex ambiguous
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7
Q

Difference bewteen myeloschisis and myelomeningocele

A

membrane covering in myelomeningocele

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8
Q

Def of arnold chiari type 1

A

cerebellar tonsillar displacement: 5mm through foramen magnum

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9
Q

Define type 2 Chiari malformation?

A

cerebellar tonsil displaced
medulla inferiorly displaced (may be kinked)
lumbosacral myelomeningocele
beaked tectum

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10
Q

Chiari III malformation?

A

Type II + occipital encephalocele

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11
Q

Type IV chiari?

A

Cerebellar hypoplasia

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12
Q

secondary neurulation refers to what?

A

formation of caudal neural tube w/ lower sacral and coccygeal segments - causes dyraphic states; abnl filum and conus

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13
Q

Caudal Regression Syndrome?

Who is at risk?

A

malformations of caudal region: hindgut, GU, caudal spine, spinal cord and lower limbs
Infants of diabetic mothers

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14
Q

dastematomyelia

A

bifid spinal cord (septum divides sc longitudinally)

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15
Q

Myelocystocele

Associations?

A

dilation of central canal of caudal neural tube

GI or GU anomalies (bladder/cloacal extrophy, imperforate anus, omphalocele)

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16
Q

Schizencephaly is a disorder of what developmental issue?

A

segmentation

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17
Q

schizencephaly gene mutation?

A

EMX2 on Ch10q26.1

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18
Q

Holoprosencephaly defects? (3 types)

Type of disorder

A

prosencelphalic cleavage disorder
Causes olfactory bulb/tract absence, midline facial defects, cyclopia, organ malformations.
1. Alobar: most severe: single ventricle, no separation of hemispheres, absent CC, fused thal/BG
2. Semilobar: posterior hemisphere separation, splenium cc present
3. Lobar: absent septum pellucidum, incomplete formation of interhemispheric fissure and cerebral falx

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19
Q

possible gene for holoprosencephaly

A

sonic hedgehog on 7q36

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20
Q

What is aicardi syndrome? (triad and genetics)

A

X-linked dominant

  1. agenesis of corpus callosum
  2. infantile spasms
  3. chorioretinal lacunae
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21
Q

Septo-optic dysplasia characterized by what?

Genetics?

A

optic nerve hypoplasia, absence of septum pellucidum, hypopit (may have hypothal)
SOD: 3 letters, Chrom 3 (HESX on 3p21)

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22
Q

Miller-Dieker syndrome characteristics and genetics

A

lissencephaly, microcephaly, sz, craniofacial, cardiac

Genetics: 17p13.3 deletion (includes LIS1 gene and 14-3-3)

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23
Q

DCX gene on chr xq22 in isolated lissencephaly presents in m/f?
Encodes for what?

A

Males: lissencephaly,
females (heterozygous): subcortical band heterotopia
Double cortin (double standards in M/F)

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24
Q

Lissencephaly more severe anteriorly vs posteriorly (gene)

A

anteriorly: DCX mutation
posteriorly: LIS1 mutation

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25
Q

4 diseases on chromosome 17:

A
  1. NF1
  2. Alexander’s Disease
  3. Canavan’s Disease
  4. Miller Dieker syndrome
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26
Q

Gene for lissencephaly with absence of corpus callosum and what is the presentation?

A

ARX on Xp22.13:
lissencephaly, absence of CC, sz, hypothalamic issues (hypothermia), ambiguous genitalia
(Are you XX or XY: ARX)

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27
Q

Gene with lissencephaly and cerebellar hypoplasia

A

RELN at 7q22 (Reelin)

Reelin from unsteadiness

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28
Q

3 diseases with cobblestone lissencephaly

A
  • syndromic congenital dystrophies : no cortical recognizable layers
    1. Fukuyama
    2. Muscle-eye-brain disease
    3. Walker Warburg syndrome
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29
Q

Genetics of Walker warburg?

A

mutation in POMT1 on chr 9q34

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30
Q

GEnetic cause of periventricular nodular heterotopia, genetics?

A

FIL-1 xq28 encodes filamin-1, usually female (males lethal)

*mutations in FIL-1 cause heterotopic neurons to FILL the ventricle

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31
Q

oculomotor apraxia, hyperpnea alternating with central apnea in neonates, cerebellar vermis agenesis
Dx and characteristic finding?

A

Joubert syndrome. Midbrain/hindbrain junction looks like molar tooth

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32
Q

pontocerebellar hypoplasia, inverted nipples, abnormal fat pads?
Dx

A

Congenital disorder of glycosylation Ia

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33
Q

Genetics of familial hemiplegic migraine

A

CACNA1A voltage-dep P/Q type calcium channel 1A gene on Chr 19p13

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34
Q

Three diseases with CACNA1A mutation on chr 19p13

A

Familial Hemiplegic migraine 1
Episodic ataxia-2
Spinocerebellar ataxia 6

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35
Q

Mutation in Familial hemiplegic migraine 2

A

ATP1A2 gene on chr 1

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36
Q

TORCH infx?

A

Toxo, Rubella, CMV, HSV

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37
Q

Cayler syndrome?

A

aka cardiofacial: hypoplasia of depressor anguli oris: asymm crying faces. Think Cardiac too

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38
Q

Duane syndrome?

A

absence or hypoplasia of abducens nucleus and nerve w/ aberrant innervation of LR by CN3

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39
Q

What is mobius syndrome?

A

Congenital facial diplegia w/ abducens palsy and +/- NM abnormalities

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40
Q

Vein of galen malformation is actually what dilated?

A

median prosencephalic vein of Markowsky dilation

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41
Q

What is Masa syndrome? Genetics?

A

X-linked recessive, L1CAM gene
MR, Aphasia, Shuffling gait, Adducted thumbs
(aqueductal stensois, agenesis of cc

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42
Q

CRASH Syndromes?

A

CC hypoplasia, mR, Adducted thumbs, Spastic paraparesis, Hydrocephalus
-all X-linked recessive L1CAM w/ hydroceph, Spast paraparesis 1, CC agenesis, MASA
(better for MASA than NASA to CRASH a CAMaro)

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43
Q

Dandy Walker syndrome? (triad)

associated sx?

A

Agenesis of cerebellar vermis
Cystic dilation of 4th V
Enlarged posterior fossa w/ elevated tentorium

May be assoc w/ occipital encephalocele, DD, cortical malf, sz, polycystic kidneys, cardiac

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44
Q

PHACES?

A 
Posterior fossa malformation
Hemangiomas of FACE
Arterial anomalies
Coarct Ao
Eye abnl
Sternal clefting / supraumbilical raphe
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45
Q

Draw sutures and types of craniosynostosis

A
  1. Coronal: gives brachycephaly
  2. Metopic gives trigonocephaly
  3. sagittal gives scaphocephaly/dolichocephaly
  4. lambdoid gives posterior displaced ear (trapezoid)
  5. deformational gives anterior placed ear (parallelogram)
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46
Q

Apert syndrome?

Genetics / inheritance

A

coronal craniosynostosis, syndactyly, proptosis, hypertelorism
(Can’t get fingers apart)
FGFR2 on 10q26, AD

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47
Q

Carpenter disease and inheritance

A

multiple suture abnl causing clover leaf deformity, polydactyly (lets carpenter hold tools), MR
AR

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48
Q

Crouzon’s

-dz and geneticas

A

craniofacial dysostosis: beaklike nose, maxillary hypoplasia, but NO syndactyly unlike Aperts
Same genetics: AD, FGFR2 on 10q26

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49
Q

broad thumbs, polydactyly, craniosynostosis?

A

Pfeiffer syndrome

50
Q

clover leaf skull deformity, polydactyly, ID

A

Carpenter disease

51
Q

soft tissue swelling that crosses suture lines in newborn

A

caput succedaneum

-succeeds in crossing suture lines

52
Q

Repeat for FRagile X is what?

A

CGG (C giant gonads)

53
Q

possible genetic changes in Angelmans? (4)

A
  1. deleted maternal 15q11-13
  2. duplicated paternal
  3. ubiquitin protein ligase mutation from mom
  4. imprinting center
54
Q

Genetic issue in prader willi (2 possible)

A
  1. deleted paternal 15q11.13 or 2. duplicated / /maternal disomy
55
Q 
what dx:
holoprosencephaly
DD
apnea
omphalocele
polycystic kidneys
CV abnormality
A

T13: Patau

56
Q 
dx? 
ID
flexion deformity
overlapping fingers
rocker bottom feet
omphalocele
polycystic kidneys
CV abnormality
A

T18, Edwards

57
Q

Mutation in William’s system what does it affect?

A

chr 7q11.23 - elastin gene

58
Q

stellate iris pattern in what?

59
Q

Chromosome / genetics of CHARGE

What is charge?

A

Coloboma eye
Heart
Choanal atresia
Retarded growth/mental

CHD-7 (has CHD) and its CHargeD. AD, Chr 8q12.1

60
Q

Digeorge?

A

Cardiac Abnormal T cell down Clefting Hypocalcemia- chr 22q11 del

61
Q

3 possible RETT mutations?

A

MECP2 deletion, CDKL5, STK9

62
Q

4 phases of Rett?

A
  1. early onset (3-6 mos acquired microcephaly, DD, ASD like, hand wringing
  2. regression 1-4y w/ loss of purposeful hands and speech, autonomic issues
  3. stabilization
  4. late motor loss of walking
63
Q

Greek helmet facies, high hairline, frontal bossing, hypertelorism, clefts, ID, microcephaly
Dx and genetics?

A

Wolff-Hirschhorn, 4p16 deletion

64
Q

aberrant mouth, eyelid connection

A

Marcus Gunn syndrome

65
Q

normal head growth in first 3 mos, next 3 mos, 7-12 mos

A

Start at 35cm
0-3: 2cm/mo
4-6 mos: 1cm/mo
7-12 mos: 0.5cm/mo

66
Q

PArt of the night for night terrors? type of sleep?

A

first two hours of falling asleep, slow wave sleep

67
Q

who gets confusional arousals, what part of night, type of sleep?

A

babies/toddlers, first 3 of night in SWS

68
Q

Timing of breath holding spells

A

onset 2 mo-2y

resolves by 6-8yr

69
Q

dx of tourettes

A

vocal and motor tics for at least 1y

70
Q

4 meds for tics?

A
  1. tenex
  2. clonidine
  3. pimozine
  4. risperdal
71
Q

chromosome for Wilsons and inheritance

A

AR, Chr 13

72
Q

Inheritance and treatment for paroxysmal kinesigenic choreoathetosis

A

AD, Carbamazepine/BZD

73
Q

Chr / genetics of huntingtons

A

CAG repeat on Chr 4 (catch animal game)

74
Q

iron accum in brain
what dz
what eye findings
inheritance

A

PANK2 (Hallervorden-Spatz)
Chr 20, AR
mutation in pantothenate kinase gene
Eyes: retinal degen, pigmentary retinopathy, optic atrophy

75
Q

FEature of dopamine responsive dystonia

A

tends to worsen with fatigue and exercise

76
Q

common dystonia in Ashkenazi population

genetics / inheritance

A

DYT1 (type 1 dystonia) AD chr 9, variable penetrance

77
Q

where does spinal cord end

A

L1-2 (same as adult)

78
Q

when does neural tube close?

A

21-29 days

79
Q

avoid what AED / sz tx in suspected inborn error of metab?

A

VPA, ketogenic diet

80
Q

ETC complex entirely nuclear dna enconded

A

Complex II

81
Q

MERRF amino acid issue vs MELAS

A

MERRF: tRNA lysine point mutation
MELAS: tRNA leucine

82
Q

chronic progressive external ophthalmoplegia

A

Kearns-Sayre Syndrome

83
Q

What are POLG1 mutations

  • what chr
  • what for/mechanism
  • what disorders
A

Chr 15
used in replication of mitocho DNA
Mitoch dna depletion syndromes: Alpers, MNGIE

84
Q

painless progessive central vision loss, Wolff Parkinson White, ID, MS like sx
Dx?

A

Leber Hereditary Optic Neuropathy

85
Q 
coarse facial features, HSM, and neurological deterioration
suspect what  class of disorders
A

Lysosomal Storage Disease

86
Q

developmental delay, epilepsy, agenesis corpus callosum, hypotonia, Wilm’s tumor
MACROCEPHALY

A

Soto: cerebral gigantism

87
Q

PTEN mutation (2 names)

A

Bannayan-Riley-Ruvalcaba OR Riley-Smith

88
Q

large subdural fluid spaces and hemorrhages mistaken for NAT seen in what disorder?

A

glutaric aciduria Type 1

89
Q

holoprosencephaly assoc w/ what gene mutation

A

sonic hedghog

90
Q

schizencephaly with what common gene mutation

assoc w/ what?

A

sonic hedghog

other organ malformations

91
Q

kidney fibrosis, pons and cerebellar hypoplasia, abnormal breathing, jerky eye movements

  • Dx
  • MRI sign
A

Joubert

Molar tooth sign (long cerebellar peduncles)

92
Q

Trisomies that can cause a cerebellar hypoplasia and major brain malformations

A

T9, 13, 18

93
Q

age for tandem gait dev?

94
Q

age to follow three step commands

95
Q

when can kid unbutton?

96
Q

heart issue that may be assoc w/ congenital hearing loss

A

long qt (Jervell and Lange-Neilson)

97
Q

TSC gene mutation (2)

% spontaneous

A

TS1 chr 9q34 hamartin
TSC2 chr 16q13.3 tuberin
50% spontaneous

98
Q

Stages of incontinentia pigmenti

A

vesicular stage at birth
veruccous stage
hyperpigmentation between 3-6 mos
hypopigmentation / atrophy in adult women

99
Q

genetics / inheritance of incontinentia pigmenti

A

X linked dominant Xq28 or XXY

NEMO gene

100
Q

Inheritance of sturge weber?

A

usually sporadic

101
Q

leptomeningeal vascular angiomatosis with tram track calcification
Other eye issues?

A

Sturge Weber

Glaucoma

102
Q

Increased AFP and CAE and poor immunity with lack of T helper cells, absent IgA and/or IgE what dz and what main sx? Inheritance?

A

Ataxia telangiectasia
AR ch11q22-23 (ATM gene: Ataxia Telang, Mucus)
Progressive movement d/o and ataxia, oculocutaneous telangiectasias, ID, endocrine issues, recurrent sinopulm infx

103
Q

Chr involved in Van Hippel Lindau. What CNS / tumor issues?

A

Chr 3, 11 (Autosomal dominant)
hemangioblastomas of brain and retina
also pheos, kidney/pancreas tumors

104
Q

swirly pigmentation

-give rise to what?

A

hypomelanosis of Ito

Whorls give rize to Blaschko’s lines

105
Q

what causes hypomelanosis of Ito? genetics

A

somatic mosaicism xp11

106
Q

CNS issues with hypomelanosis of Ito

A

epilepsy/ID , grey matter heterotopia, macrocephaly, hemimegalancephaly, asd
infantile spasms

107
Q

Linear sebaceous nevus syndrome may be assoc w/ what CNS abnormality

A

hemimegaliencephaly

108
Q

Klippel Trenaunay Weber assoc w/ what triad

what genetics

A

port wine stain, varicose veins, bone/soft tissue hypertrophy of extremity
sporadic chr 8q mutation

109
Q

Syndromes / neurological conditions with defective DNA repair (3)

A
  1. Ataxia Telangiectasia
  2. Cockayne
  3. xeroderma pigmentosa
110
Q

MRI finding in Ataxia Telangiectasia

A

cerebellar atrophy, may also have degen of posteiror columns and loss of DRG cells/anterior horn cells

111
Q

Characteristics of Ataxia-Telangiectasia: ATAXIA

A 
Ataxia
Tremor/movement d/o
Apraxia-oculomotor
X-ray sensitivity
Infx/Igs low, Incr cancer *lymphoma/leukemia
ATM gene
112
Q

What dz:

Progeria, cataracts, photosensitivity, short stature, decreased fat and CNS issues

A

Cockayne
–ID, ataxia, BG calcifications, patchy demyelination, peripheral neuropathy, pigmentary retinopathy, deafness, contractures

113
Q

–ID, ataxia, BG calcifications, patchy demyelination, peripheral neuropathy, pigmentary retinopathy, deafness, contractures
DNA repair defect

114
Q

Side of nevus compared to other (2) abnormalities in linear sebaceous nevus syndrome?

A

Ipsilateral hemihypertrophy and/or hemimegalencephaly

115
Q

common musculoskeletal issue in Hypomelanosis of Ito

A

hemihypertrophy

116
Q

What is the mechanism of defect in NF?

A

lack of neurofibromin leads to active GTP-RAS which a proto-oncogene that remains active and leads to increased cell growth / tumor formation

117
Q

Big heads and little heads associated with chromosome 17?

A

Macrocephaly: NF1, Alexander’s, Canavan’s
Microcephaly: Lissencephaly (LIS1), Miller-Diecker

118
Q

Chromosome and defective protein in NF2

A

Chr 22, Merlin mutation

119
Q

Disease to think about w/ recurrent epistaxis

Presenting when?

A

hereditary hemorraghic telangiectasia (HHT) / Osler-Weber-Rendu syndrome (nosebleeds around age 12y)

120
Q

typical location of leptomeningeal angioma and in what disease

A

Sturge Weber

usually ipsilateral occipital region

121
Q

Genetic mutation in Von Hippel Lindau?

A 
Chromosome 3
(VHS tapes on channel 3)
122
Q

acquired microcephaly, dementia, sensorineural hearing loss, ataxia, peripheral neuropathy
Dx and other risk?

A

Xeroderma pigmentosa

Defective DNA repair: incr risk skin cancer / photosens

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