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Child Neurology > Buzz Phrases > Flashcards

Buzz Phrases Flashcards

1
Q

Anterior neuropore fusion defects

A

Anencephaly, encephalocele

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2
Q

Posterior neuropore fusion defects

A

Myelomeningocele, spina bifida

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3
Q

Signals for neural tube differentiation

A

From the mesoderm of notochord: sonic hedgehog; from lateral epidermal ectoderm: bone morphogenic proteins

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4
Q

Risk factors for neural tube defects

A

Folate deficiency, AEDs, maternal diabetes, vitamin A toxicity, females

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5
Q

Cells of origin of CNS

A

Ectoderm, derived from neural tube

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6
Q

Cells of origin of peripheral nervous system

A

Ectoderm, derived from neural crest cells

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7
Q

Cells of origin of vertebral bodies

A

Mesoderm of notochord

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8
Q

Balloon cells

A

Focal cortical dysplasia, disorder of cell proliferation

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9
Q

Holoprosencephaly

A

Failure of prosencephalon to divide into cerebral hemisphere and other structures. Problem during 4-8 weeks GA

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10
Q

Reduced visual acuity, panhypopit, absent septum pellucidum

A

Septo optic dysplasia

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11
Q

Smooth brain, small chin, thin upper lip, intractable epilepsy. Disorder and genetics?

A

Lissencephaly type I, Miller-Dieker syndrome, LIS1 gene, chromosome 17, disorder of microtubules and dynein

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12
Q

Gene mutation leads to smooth brain in males, double cortex in females. Dx? Gene?

A

X-linked lissencephaly, DCX gene (doublecortin protein)

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13
Q

Three disorders associated with cobblestone cortical malformation

A

Walker-Warburg syndrome, Fukuyama muscular dystrophy, and muscle-eye-brain disease.

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14
Q

Molar tooth sign

A

Joubert syndrome and other disorders of cerebellar hypoplasia

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15
Q

Childhood obesity and intellectual disability

A

Prader-Willi syndrome, Laurence-Moon syndrome

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16
Q

Inappropriate laughter, arm flapping, intellectual disability, seizures, prominent jaw

A

Angelman’s syndrome

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17
Q

What’s the genetic defect in Prader-willi and Angelman syndrome?

A

Chromosome 15q11-13
Paternally inherited—> Prader Willi
Maternally inherited —> ANGELman’s

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18
Q

Intellectual disability, big ears and testes - disorder and genetic defect?

A

Fragile X, CGG repeat (Child w/ Giant Gonads)

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19
Q

Developmental regression at 6-18 months, hand wringing and microcephalic in a female

A

Rett syndrome, MECP2 mutation, CDKL5 mutation also results in Rett-like syndrome with earlier onset sz

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20
Q

Cafe au lait macules

A

NF1

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21
Q

Shagreen patch

A

TSC

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22
Q

Cutaneous neurofibromas

A

NF1

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23
Q

Gene in NF2

A

Merlin gene, chromosome 22

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24
Q

Gene in NF1

A

Neurofibromin gene, chromosome 17

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25
Q

Axillary or inguinal freckling

A

NF1

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26
Q

Bilateral vestibular schwannomas

A

NF2

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27
Q

Lisch nodules- what are they

A

Iris hamartomas, seen in NF1

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28
Q

Name some features of TSC

A

SEGAs, shagreen patch, ash leaf spots, dental enamel pits, lymphangiomatosis (females), cardiac rhabdomyomas, angiolipomas of kidney

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29
Q

Sphenoid wing dysplasia

A

NF1

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30
Q

Multiple intracranial AVMs

A

HHT (aka Osler Weber Rendu syndrome)

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31
Q

Tx to inhibit growth of TSC hamartomas

A

Rapamycin (mTORi)

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32
Q

Hypopigmented streaks that follow skin lines

A

Hypomelanosis of Ito, seen in neurocutaneous syndrome assoc with sz and dev delay

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33
Q

Hyperpigmented cutaneous lesions and leptomeningeal melanoma

A

Neurocutaneous Melanosis

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34
Q

Hemifacial atrophy

A

Parry-Romberg syndrome

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35
Q

Megalencephaly, symmetric white matter disease involving U fibers, N-acetylaspartic peak on MRS. disease and enzyme def?

A

Canavan’s disease
Aspartoacylase deficiency

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36
Q

Symmetric white matter involvement in primarily posterior regions, spares U fibers

A

Adrenoleukodystrophy

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37
Q

Angiokeratomas, renal failure, hypertension, strokes, autonomic dysfunction. Disease and enzyme?

A

Fabry’s disease
(Funky autonomics, Angiokeratomas, BP, Renal fail, Y Strokes)

X linked
A-galactosidase deficiency (alpha gal)
Buildup of glycosphingolipids in lysosomes

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38
Q

Metachromatic leukodystrophy enzyme

A

Arylsulfatase A deficiency

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39
Q

Disorder of cholesterol trafficking in intracellular domain

A

Niemann Pick type C
C for cholesterol!

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40
Q

Acid sphingomyelinase deficiency

A

Niemann Pick types A and B

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41
Q

Hexoaminidase A and B deficiency

A

Sandoff’s disease

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42
Q

Hexoaminidase A deficiency

A

Tay Sachs disease

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43
Q

Globoid cells

A

Krabbe disease
Galactocerebroside B galactosidase deficiency

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44
Q

Gaucher’s disease

A

Glucocerebrosidase deficiency
Wrinkled tissue paper cells : gaucher cells

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45
Q

disorders of cell proliferation (name 3)

A
  1. megalencephaly
  2. microcephaly
  3. focal cortical dysplasia
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46
Q

disorders of neuronal migration (name 3)

A
  1. lissencephaly (agyria, pachygyria, subcortical band heterotopia)
  2. cobblestone complex malformations
  3. all types of heterotopia
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47
Q

disorders of cortical organization (name 3)

A
  1. polymicrogyria
  2. schizencephaly
  3. FCD with normal cell types
    also microdysgenesis
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48
Q

hemifacial atrophy, headaches, seizures, hemiparesis

A

Parry-Romberg syndrome

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49
Q

congenital skin lesions + leptomeningeal melanosis. risk of hydrocephalus and melanoma

A

neurocutaneous melanosis

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50
Q

X-linked disorder that causes hyperpigmented lesions following skin lines in girls, ID, ocular problems. dx and gene?

A

incontinentia pigmenti (lethal in boys)
NEMO mutation

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51
Q

hypopigmented skin lesions that follow skin lines, eye problems, ID, seizures

A

hypomelanosis of Ito

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52
Q

enchondromas (cartilage tumors) + secondary hemangiomas, CNS tumors and skin findings

A

Maffucci’s syndrome

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53
Q

cafe au lait spots, axillary freckling, dysmorphic face. NO optic glioma, neurofibromas, or Lisch nodules. Dx?

A

Legius’ syndrome, AD, SPRED1 gene on chromosome 15. no increased cancer risk like NF1

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54
Q

dx criteria for NF1

A

2 or more:
1) 6+ cafe au lait macules
2) inguinal/axillary freckling
3) 2+ cutaneous neurofibromas or 1 plexiform
4) 2+ Lisch nodules
5) optic pathway glioma
6) bony lesion
7) 1st degree relative with NF1

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55
Q

inheritance pattern of cobblestone malformations

A

autosomal recessive
ex. Walker Warburg, Fukuyama, muscle eye brain

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56
Q

patient with ectopia lentis, marfanoid habitus, stroke risk, intellectual disability. dx? Deficiency? Inheritance? Labs? Tx?

A

homocysteinuria
caused by cystathionine-B-synthase deficiency
AR mutation in gene CBS on chromo 21
increased homocystine, homocysteine and methionine in blood and urine

tx: pyridoxine can help in one variant + low protein diet , folate and B12

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57
Q

periventricular nodular heterotopia genetics

A

in more than 50% of cases, X-linked dominant, affecting heterozygous females because boys die young, more severe presentation

FLNA gene (FILAMIN A) on X chromosome

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58
Q

urea cycle disorders (clinical features, lab findings, inheritance?)

A

triad of hyperammonemia, encephalopathy, respiratory alkalosis. cerebral edema. most present in newborn period except arginase deficiency

patients will have very high serum ammonia, no evidence of organic acidemia, normal anion gap, and normal serum glucose

most common is ornithine transcarbylase deficiency (OTC deficiency) which is X-linked recessive, but all others are AR

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59
Q

excessive abnormal gyri that are small and separated by shallow gyri

A

polymicrogyria

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60
Q

most common location of polymicrogyria

A

perisylvian

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61
Q

deep cleft that extends from pial surface to the ventricle and is lined with cortex (gray matter)

A

schizencephaly

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62
Q

closed lip vs open lip schizencephaly

A

closed - cerebral cortical walls on either side of cleft are intact.
open - two walls are separated by csf

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63
Q

porencephaly vs schizencephaly

A

porencephalic cysts lined with white matter, whereas schiz is gray matter.
porencephaly = CSF filled cysts resulting from in utero infarction or other insult. not a cortical malformation

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64
Q

floppy baby that can’t feed well and needs a GT, later hyperphagia in childhood

A

prader willi syndrome
15q11-13, paternally inherited

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65
Q

happy puppet syndrome: inappropriate laughter, ataxic, intractable epilepsy, microcephaly, ID, prominent jaw

A

angelman syndrome
15q11-13, maternally inherited

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66
Q

williams syndrome genetic deletion

A

chromosome 7q

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67
Q

cri du chat genetics

A

chromosome 5p deletion

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68
Q

enzyme that is deficient in methylmalonic acidemia and what products build up?

A

methylmalonyl-CoA mutase

which catalizes

L methylmalonyl CoA —-> succinyl CoA, which then enters Krebs cycle

leads up build up of propionyl-CoA, propionic acid, methylmalonic acid –> metabolic acidosis, hyperglycinemia, hyperammonemia

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69
Q

cofactor required for the methylmalonic acid equation

A

5’-deoxyadenosylcobalamin

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70
Q

newborn with metabolic acidosis, ketosis, hyperglycinemia, hyperammonemia

treatment?

A

methylmalonic acidemia
tx: protein restriction, supplement with IM hydroxycobalamin and carnitine

71
Q

biotinidase deficiency - inheritance, pathway involved, sx, tx

A

biotinidase can’t recycle biotin or free it to be used. AR

p/w sz, hypotonia, ataxia, hearing/vision loss, alopecia, ketoacidosis, high ammonia, organic aciduria

tx with biotin supp - but once hearing/vision/delays occur can’t reverse them.

partial deficiency = 10-30% enzyme activity

72
Q

cerebellar vermis hypoplasia, 4th vent cystic dilatation, can be assoc with hydrocephalus and genetic anomalies

A

dandy walker malformation

73
Q

Betz cells

A

UMNs of the nervous system
large cells in primary motor cortex (layer 5)

74
Q

cortical layers from superficial to deep

A

I - most superficial - molecular
2 - external granular
3 - external pyramidal
4 - internal granular
5 - internal pyramidal
6 - multiform layer (deepest)

75
Q

glucocerebrosidase (acid B-glucosylceramidase) deficiency

A

Gaucher disease (AR)

lysosomal accumulation of glucocerebrosides

76
Q

types of Gaucher disease-(the-1-i-saw-was-type-2)

A

Type 1 - hepatosplenomegaly - no CNS involvement
Type 2 - onset before age 2, CNS movement d/o, spasticity, eye probs progress to death by age 2-4 years
Type 3 - onset after age 2, slow progression. BMT may help

enzyme replacement helps liver but not brain

77
Q

cortical tubers in TSC, what are they made of, do they matter, do they grow

A

contain big bizarre neurons, abnormal glia, mainly astrocytes.

NOT premalignant
don’t grow, but can look different on MRI over time as kid ages (change in myelination)

tuber burden –> sz burden

78
Q

GM2 gangliosidosis

A

deficiency of hexoaminidase A –> Tay Sachs (only alpha subunits)

deficiency of hexoaminidase A & B –> Sandhoff’s disease (beta subunits)

both are AR

79
Q

difference between Tay Sach’s and Sandhoff’s

A

BOTH - macrocephaly, cherry red spot, regression

Tay Sachs only affects CNS (HEXA - A only) and Ashkenazi Jews (“A” Sachs)

whereas Sandhoff’s affects CNS + hepatosplenomegaly (HEXB - A and B)
think volleyball player getting hit in head and liver on the sand

80
Q

nonenhancing calcified nodules on a Ritter/Franz patient

A

subependymal nodules (versus SEGAs which enhance)

81
Q

what is benign hereditary calcification of basal ganglia?

A

Fahr’s disease - calcifications within striatum or thalamus, not nodular like SENs seen in TSC.

82
Q

deficiency of aspartocylase –> accumulation of N-acetylaspartic acid in brain

A

Canavan disease
megalencephaly
poor fixation/tracking in new baby with regression, irritability

MRI - diffuse symmetric WM hyperintensity involving U fibers
MRS shows N-acetylaspartic acid peak

83
Q

Canavan disease - what is deficient/accumulated?

A

deficient: aspartoacylase

build up: N-acetylaspartic acid

84
Q

sick baby in NICU who began irritable with poor feeding after birth, then tanked and became hypotonia, with myoclonic sz and was intubated. MRI shows partial ACC, cerebellar hypoplasia. CSF showed elevated glycine. dx and inheritance?

A

nonketotic hyperglycinemia (glycine encephalopathy)
AR
most common mutation in P -protein of glycine decarboxylase gene

85
Q

role of sodium benzoate in NKH

A

decreases plasma glycine but not CSF
can’t reverse neurologic dysfunction

85
Q

role of sodium benzoate in NKH

A

decreases plasma glycine but not CSF
can’t reverse neurologic dysfunction

86
Q

galactocerebrosidase = B-galactosylceramidase = galactocerebroside-B-galactosidase …all different names for the same protein that is defective in what?

A

Krabbe disease –> leads to accumulation of galactosylceramides in macrophages of WM

87
Q

baby with exaggerated startle to stimuli, very irritable (crabby), hypertonic –> opisthotonic, blind, regression, demyelinating polyneuropathy with areflexia. death by 1-2 years

A

Krabbe disease
symmetric demyelination of WM sparing U fibers
globoid cells

88
Q

diagnostic criteria for NF2

A
  1. bilateral vestibular schwannomas of CN 8
  2. one vest schwannoma + close relative with NF2
  3. close relative with NF2 + any 2: neurofibroma, schwannoma,meningioma, glioma
  4. one vest schwannoma + 2 other tumors
  5. multiple meningiomas and one vest schwannoma
89
Q

looks like Hurler’s syndrome, but with cherry red spot on macula

A

GM1 gangliosidosis - coarse facial features, spasticity, regression, cherry red macula

90
Q

defective protein/gene in GM1 gangliosidosis

A

defective Beta-galactosidase
GLB1 gene

91
Q

baby with macrocephaly, dev delay, spasticity, seizures, path slide with long eosinophilic fibers

A

Alexander’s disease - megalencephaly
Rosenthal fibers
GFAP mutation

92
Q

TSC1 protein and chromosome

A

hamartin, chromo 9

93
Q

TSC2 protein and chromo

A

tuberin, chromo 16

94
Q

tigroid appearance of white matter on MRI

A

Pelizaeus-Merzbacher disease

95
Q

Pelizaeus Merzbacher disease -
inheritance? gene? clinical features? MRI?

A

X linked recessive
PLP1 gene
hypomyelinating leukodystrophy
nodding head, pendular nystagmus, abnormal eye movements, ataxia, chorea, dystonia, spasticity

tigroid WM - spares U fibers

96
Q

alpha-L-iduronidase deficiency. disease and what accumulates?

A

Hurler’s syndrome, MPS Type I
accumulation of dermatan and heparan sulfate

97
Q

defect in iduronate sulfatase

A

Hunter’s syndrome, MPS Type II
accumulation of dermatan sulfate and heparan sulfate
no corneal clouding
ivory colored back lesions

98
Q

difference between Hurler’s and Hunter’s syndromes (3)

A

Hurler’s has corneal clouding and nodules on back, AR

Hunter’s - normal eyes, no skin stuff on back, X-linked (hunters need to see their target, X)

99
Q

zebra bodies on electron microscopy

A

Hurler’s syndrome(Hunters-got-rid-of-zebras)
represents lamellar material in neurons that makes a layered appearance

100
Q

PBG deaminase defect

A

porphyria
problem with heme biosynthesis

most are AD

101
Q

epidermal nevus syndrome - name 2 examples, risk of what?

A

Proteus syndrome (asymmetric big tissues/bones), Becker nevus

not all have neuro sx - but nevi on head –> neuro sx

risk of cancer

102
Q

orange tonsils - Tangier disease (tangerine). mutation in what?

A

adenosine triphosphate cassette transporter protein deficiency –> HDL deficiency –> very low total cholesterol and high triglycerides

103
Q

Menkes disease - whats the defect and inheritance

A

disorder of intracellular copper transport –> TOO LITTLE COPPER! (opposite of Wilson’s –> too much)
kinky hair, no eyebrows , subdurals in baby
X linked

104
Q

abetalipoproteinemia - how does it present and what is low?

A

low vitamin E, no apolipoprotein B, anemia

p/w ataxia, gait probs due to both cerebellar involvement and loss of proprio due to posterior column involvement. also have retinitis pigmentosa

105
Q

Miller Dieker syndrome

A

lissencephaly
chromosome 17p deletion
midline defects (omphalocele)

106
Q

X linked disorder with acanthocytes on peripheral smear, cognitive changes, chorea, weakness

A

McLeod neuroacanthocytosis

107
Q

person with diabetes and sudden jerks/dance like movements of one arm

A

hyperglycemia induced hemichorea/hemiballismus

108
Q

bi-allelic mutations of biotinidase gene on molecular genetic testing

A

confirms biotinidase deficiency (AR)
enzyme necessary for recycling biotin –> biotin deficiency

biotin is an important cofactor for carboxylation

metabolic ketoacidosis and organic aciduria

tx: biotin supplementation (neuro sx may persist)

109
Q

subcortical band heterotopia genetics, what kind of brain development disorder? presentation in males vs females?

A

DCX gene (double cortin protein, microtubules)
X linked
lissencephaly - migration disorder

lyonization (random X inactivation) –> classic lissencephaly in boys, subcortical band heterotopia in females

110
Q

75% of cases of holoprosencephaly attributed to what genetic defect?

A

trisomy 13

111
Q

6 month old with macrocephaly, frontal bossing, prominent scalp veins, lower extremity spasticity and motor delay

A

hydrocephalus - get CT or HUS

112
Q

excessive physical growth in first 2-3 years of life, hypotonia, increased risk of intellectual disability/autism

A

Sotos syndrome

113
Q

testing for opsoclonus myoclonus

A

MRI chest pelvis and abdomen
urine VMA and HVA
MIBG scan if MRI negative

114
Q

5 day old baby with vomiting, jaundice, hepatosplenomegaly, cataracts, reducing substances in urine, gram negative sepsis

A

galactosemia

galactose-1-phosphate-uridyl transferase deficiency

115
Q

Rett genetics

A

MECP2 mutation on chromosome X

methyl CPG binding protein

116
Q

TIA in a child triggered by crying/hyperventilation

A

think Moya Moya disease - esp if they show you an angio

117
Q

boy with Marfanoid features, delays, ectopia lentis

A

homocystinuria (high homocysteine in blood and urine)

all 1st degree relatives should be screened for homocysteine levels. high false negative rate on newborn screen

AR

tx: pyridoxine and low methionine diet

118
Q

myeloschisis

A

most severe form of spina bifida
neural tissue is exposed - high risk of meningitis

119
Q

GNAQ mutation

A

Sturge Weber syndrome

most babies with port wine stain do NOT have SWS and will develop normally

port wine stain can be lasered off. glaucoma common in SWS

120
Q

generalized myoclonus, color vision loss, night blindness, cherry red spot, ataxia and seizures in a teen

A

sialidosis type I

dx: decrease in skin cultured fibroblast a-neuraminidase

121
Q

vomiting baby that can’t break down amino acids, valine, isoleucine, threonine, methionine, odd chain fatty acids. dx and tx?

A

methylmalonic acidemia (AR)

deficient in methylmalonic CoA mutase

Vitamin B12 def-can lead to acquired MMA because it’s a needed cofactor

tx: metronidazole, protein restriction, carnitine supplementation

122
Q

branched-chain keto-acid dehydrogenase deficiency

A

maple syrup urine disease

123
Q

cofactors for the PMS pathway

A

biotin cofactor for P—>M (propionyl to methylmalonyl)

B12 cofactor for M—>S (methylmalonyl to succinyl)

124
Q

glucocerebroside accumulation

A

Gaucher disease (AR)
most common genetic disease in Ashkenazi jews

HSM, bone disease, thrombocytopenia, bleeding

125
Q

lumbosacral plexus formed from what nerve roots

A

anterior rami of L1-S4
- anterior divisions of L2-L4 –> obturator nerve
- posterior divisions of L2-L4 –> femoral nerve

sacral plexus
- anterior part of sciatic - tibial nerve
- posterior part - peroneal

126
Q

myophosphorylase deficiency

A

McArdle’s disease
AR glycogen storage disorder
second wind phenomenon (sx go away 10 minutes after starting exercise)

127
Q

tram track calcification

A

sturge weber
GNAQ mutation

128
Q

what causes the “mousy” “Musty” odor in PKU?

A

phenylacetic acid in urine

PKU most often due to deficiency of phenylalanine hydroxylase. impairs phenylalanine –> tyrosine

tx: diet with no phenylalanine, added tyrosine and AAs

129
Q

deficiency of alpha-galactosidase A (AGA).build-up-of?

A

Fabry’s disease
build up of globotrialcyleceramide

can present with paresthesias, GI symptoms, vision probs, hearing probs, renal failure in addition to autonomic stuff, HTN, strokes

130
Q

which urea cycle disorder is the only one that’s not autosomal recessive?

A

ornithine transcarbamylase (X linked)

131
Q

poor feeding and elevated ammonia level in newborn

A

think urea cycle disorder

132
Q

raised oval shaped skin-colored patches on baby trunk and lower back

A

shagreen patches
TSC

133
Q

unilateral headaches with conjunctival tearing that happen >5x per day lasting 2-30 minutes

A

paroxysmal hemicrania
tx indomethacin

134
Q

pain over V1 area lasting 1-10 seconds
no autonomic symptoms

A

primary stabbing headache

135
Q

Galant reflex

A

primitive baby reflex - stroke the side of the spine while the baby is prone and hip will curve towards the touch

should disappear by 4-6 months

136
Q

tonic neck reflex

A

baby reflex - fencing posture
when head is turned, that ipsi side extends arm and contra arm flexes
should go away by 6 months

137
Q

crossed adduction in baby

A

normal primitive reflex - patellar reflex –> crossed adduction of opposite leg. should go away by 7 months

138
Q

Moro reflex

A

should disappear by 5-6 months

139
Q

Landau reflex

A

when the baby “supermans” in horizontal suspension (remember lois LANEdau was Superman’s gf)
appears around 4-6 months, goes away after 1 year

140
Q

HIV in kids-manifestations

A

basal ganglia calcifications, hepatosplenomegaly, microcephaly, FTT

HIV encephalopathy - regression, spasticity, movement disorders, myoclonus, epilepsy

141
Q

Kearns-Sayre syndrome

A

mtDNA deletion
onset before 20 years, pigmentary retinopathy, progressive external ophthalmoplegia , ataxia, cognitive probs, hearing loss

142
Q

NF2 tumors

A

vestibular schwannomas
other schwannomas (CN III)
meningiomas
spinal ependymomas
gliomas

143
Q

ataxia telangiectasia testing

A

elevated serum AFP
elevated CEA-carcinoembryonic-antigen
low IgG, IgA, IgE
together these labs are 90% sensitive

brain MRI may show cerebellar atrophy
avoid Xrays (impaired DNA repair)

144
Q

kids with spina bifida prob have allergy to what

A

Latex randomly?!!!

68% allergic to latex!

145
Q

can boys have subcortical band heterotopia?

A

not as common as in girls, but yes - if they have mosaicism

most cases are DCX gene which is X linked
but some are PAFAH1B1, sporadic mosaic mutation after conception.

can range from severe ID and sz in infancy to normal IQ and focal sz in teens/adults

146
Q

maple syrup urine disease treatment

A

protein restriction

episodes of ataxia and dark urine (maple syrup urine)

147
Q

looks like hurler’s but cherry red spot

A

GM1 gangliosidosis

beta- galactosidase mutation

autosomal recessive

148
Q

NCLs - match the number to the type (congenital,

A

10 - congenital
1 - infantile (first year)
6, 4 - late infantile or adult
8 - late infantile

149
Q

cytochrome B deficiency

A

mitochondrial mutation
myopathy, exercise intolerance, renal probs, cardiomyopathy

150
Q

myophosphorlyase deficiency

A

McArdle’s - muscle fatigue with exercise
glycogen storage type 5
can’t high 5 because muscle cramps and myoglobinuria
AR

151
Q

elongator complex protein 1 defect

A

Riley Day = HSAN 3 = familial dysautonomia
AR

152
Q

merosin defect

A

congenital muscular dystrophy

153
Q

point mutation in PMP22

A

NOT a deletion or duplication…can be AR or AD
CMT3 (dejerine sottas)
CMT1E
congenital hypomyelination

154
Q

vomiting baby with reducing substances in urine

A

galactosemia

remove lactose AND galactose from diet!

155
Q

PDH deficiency inheritance

A

depends on what component of PDH complex is messed up

most common is X linked
others are AR

156
Q

PDH deficiency presentation

A

variable, neonatal vs infancy with lactic and pyruvic acidosis , episodic exacerbations triggered by infection, stress, carb loads

suspect in kids with high lactate and pyruvate, and low lactate:pyruvate ratio

tx with keto diet and thiamine supplementation

157
Q

treatment of propionic acidemia

A

protein restriction
biotin (and carnitine) supplementation
metronidazole may decrease production of propionate by gut bacteria

158
Q

positive Filipin test

A

Niemann Pick type C - cant esterify cholesterol (messed up intracellular cholesterol trafficking) so it accumulates in perinuclear lysosomes

159
Q

dev delay, liver stuff, lipodystrophy (inverted nipples). dx?

A

congenital disorders of glycosylation (carb-deficient transferrin in CSF and blood)

160
Q

increased very long chain fatty acids + liver and kidney stuff

A

Zellweger’s
peroxisomal

161
Q

glycine encephalopathy

A

partial ACC + elevated CSF glycine

AR
irritable newborns with poor feeding, progressive encephalopathy with myoclonus, resp failure
EEG burst suppression
defect in proteins that make up mito glycine cleavage system –> glycine accumulates everywhere. most common mutation in P protein (glycine decarboxylase gene)

162
Q

accumulation of galactocerebrosidases in macrophages

A

Krabbe disease - mutation in galactocerebrosidase (aka galactocerebroside-B-glactosidase, galactosylceramidase)

163
Q

B-galactosidase deficiency

A

GM1 gangliosidosis
buildup of gangliosides in brain/organs
looks like Hurler’s but with cherry red spot

164
Q

TSC genes, proteins and chromosomes

A

TSC 1- hamartin protein on chromo 9

TSC 2 - tuberin protein on chromo 16

165
Q

Sanfilippo’s syndrome

A

MPS III - accumulation of heparan sulfate only

166
Q

Down syndrome MRI brain findings

A

small, underdeveloped frontal lobes + small, thin superior temporal gyri

167
Q

which is the most common urea cycle disorder

A

OTC deficiency, X linked

168
Q

what’s the most mild urea cycle disorder

A

arginase deficiency, presents in adulthood

169
Q

tx of urea cycle disorders

A

restrict nitrogen intake (low protein diet)
give essential amino acids, arginine supplementation (except in arginase def)

sodium benzoate, sodium phenylacetic acid and dialysis during acute episodes

mannitol for brain edema

170
Q

filamin A mutation

A

periventricular nodular heterotopia (AKA subependymal nodular heterotopia)

X linked dominant (fatal in boys)
messed up cytoskeleton stabilization

171
Q

lab findings in homocystinuria and treatment

A

increased blood and urine levels of homocysteine, homocystine, and methionine

tx: give B6 (some forms respond), low protein diet, betaine (converts more homocysteine to methionine), folate and B12 (may also help conversion to methionine)

172
Q

homocystinuria with LOW methionine levels

A

deficiencies of:
Methylene THF reductase
methionine synthase

173
Q

buildup of globotriasylceramide

A

Fabry disease
alpha galactosidase A deficiency

Child Neurology (1 decks)

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