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Peds Neuro Boards > Congenital D/O p2 - MPS, Mitochondrial, peroxisomal, cutaneous, and Other > Flashcards

Congenital D/O p2 - MPS, Mitochondrial, peroxisomal, cutaneous, and Other Flashcards

1
Q

Hunter vs. Hurler memory tools

A

Hunters need eyes to shoot and intelligence to hunt (no eye involvement, less severe ID)
Gargoyles “hurl” balls of fire (hurler has gargoyle facies)

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2
Q

MPS common features

A

Growth retardation, short stature (all but San Fillipo)

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3
Q

Hurler’s Syndrome (MPS 1) enzyme

A

alpha - L - iduronidase (“L” in Hurler)

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4
Q

Hurler’s Syndrome (MPS 1) sx

A

Severe ID, skeletal dysplasia
hearing loss, corneal clouding
macroglossia, visceromegaly
valvular cardiac disease

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5
Q

Hurler’s Syndrome (MPS 1) path

A

zebra bodies

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6
Q

Hunter’s Syndrome (MPS 2) inheritance, enzyme

A

X-linked
iduronate sulfatase
hunTer – enzyme with Ts

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7
Q

Hunter’s Syndrome (MPS 2) sx

A

Nodular ivory colored lesions back, shoulders, upper arms
Like hurler but no corneal opacities (macrocephaly, ID, hoarse voice, hearing loss)
entrapment neuropathies

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8
Q

Sanfilippo’s syndrome (MPS 3) lab

A

elevated urine heparan sulfate

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9
Q

Hunter & Hurler product lab

A

elevated urine dermatan and heparan sulfate

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10
Q

Sanfilippo’s syndrome (MPS 3) sx

A

primarily cognitive, fewest physical abnormalities

primarily ID, + sz, mvt d/o, behavioral prob –> severe dementia

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11
Q

Morquio’s syndrome (MPS 4) gene

A

GLB1

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12
Q

Morquio’s syndrome (MPS 4) sx

A

Normal intellect
Short, skeletal dysplasia, respiratory compromise
cardiac valvular abnormalities, corneal clouding
spinal cord compression

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13
Q

MELAS gene

A

MTTL1

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14
Q

MELAS full name

A

mitochondrial encephalopathy, lactic acidosis, and strokes

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15
Q

MELAS sx

A

migraine, vomiting with anorexia, growth retardation
weakness with exercise intolerance
Stroke like episodes with residual sx (progressive neuro probs, cognitive regression, encephalopathy)
Progressive deafness

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16
Q

Leigh syndrome ws

A

Apneas, sighs, periodic hyperventilation, irregular breathing
infant: hypotonia, vomiting, sz, myoclonic jerks
>1yo: cbl atax, dysarthria, spastic, chorea/dystonies
Peripheral neuropathy, autonomic failure
Ophthalmoplegia, nystagmus

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17
Q

Leigh syndrome MRI

A

BL symmetric T2 hyperintense BG, SN, inf. olivary nuc, PAG, CC

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18
Q

Leigh syndrome tx

A

some thiamine responsive forms exist

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19
Q

Kearns sayre sx

A 
mitochondrial DNA deletion myopathy
Progressive ophthalmoplegia (can be only sx)
pigmentary retinopathy
ataxia
cardiac conduction probs
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20
Q

Kearns-sayre path

A

Muscle with ragged red fibers

WM spongy myelinopathy

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21
Q

Refsum inheritance, target

A

AD

Peroxisomal

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22
Q

Refsum sx

A

periph neuropathy, anosmia, cbl signs
Short 4th metatarsal
cardiomyopathy, skin changes
retinitis pigmentosa –> night blind, visual field

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23
Q

Refsum lab

A

increased phytanic acid

reduced/absent peroxisomes

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24
Q

Zellweger’s gene

A

PEX

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25
Q

Zellweger’s sx

A

Most severe peroxisomal disorder
hypotonia, decreased reflexes, sz, bad ID
Arthrogryposis
SN hearing loss, cataracts, retinal :(
High forehead, lg fontanelles, flat supraorbital ridge, hypotelorism, epicanthal folds, flat nasal bridge, micrognathis
Liver cirrhosis, polycystic kidney
chondrodysplasia punctate

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26
Q

Zellweger’s imaging

A

Lg ventricles, periventricular “pseudocysts”

Pachy/polymicrogyria

27
Q

NF1 chromosome, gene, inheritance

A

Chr 17
Neurofibromin gene
AD

28
Q

Hypomelanosis of Ito sx

A

hypopigmented streaks at birth on lines of blaschko
ID, sz, small/big head
Eye prob, cleft lip/palate, skeletar hemi-hypertrophy
Congen heart (TOF)

29
Q

Hypomelanosis of Ito imaging

A

Hemimegalencephaly/lissencephaly

cerebellar hypoplasia

30
Q

Osler-Weber-Rendu AKA

A

hereditary hemorrhagic telangiectasia

31
Q

Osler-Weber-Rendu gene, enzyme

A

HHT1/2

Endoglin

32
Q

Osler-Weber-Rendu sx

A

Telangiectasias all over (skin, mucosa, retina, GI tract)
AVMs in CNS
Recurrent epistaxis common

33
Q

Xeroderma Pigmentosum chromosome, dysfunction

A

chr 9

abnormal DNA repair

34
Q

Xeroderma Pigmentosum sx

A

UV light sensitive –> freckling
multiple cutaneous and systemic tumors
Neuro - progressive cog dysfxn, hearing loss, tremor, chorea, ataxia, peripheral neuropathy

35
Q

Incontinentia Pigmenti inheritance, gene

A

X-linked Dominant (female only)

NEMO

36
Q

Incontinentia Pigmenti sx

A

Vesicles at birth –> verrucous ~6wk –> hyperpigmentation on Blaschko lines. Become hypopigmented or atretic later in life

Poss normal neuro, or ID, pyramidal abnl, ocular abnl

37
Q

NF 2 chromosome, gene, inheritance

A

Chr 22
Merlin gene
AD

38
Q

Lesch Nyhan gene, enzyme

A

HPRT1

hypoxanthine guanine phosphoribosyl transferase (HGPRT)

39
Q

Lesch Nyhan sx

A

motor delay, progressive rigidity with dystonia, choreoathetosis, sz
aggression, self mutilation

Milder form with no neuro sx, just hyperuricemia, gout, nephrolithiasis

40
Q

Lesch Nyhan lab, tx

A

Hyperuricemia

purine restricted diet, allopurinol (decreases uric acid)

41
Q

Acute Intermittent Porphyria enzyme, dysfunction

A

porphobilinogendeaminase (PBGD)

dysfunction in heme production

42
Q

Acute Intermittent Porphyria sx

A

onset after puberty
attacks abd pain with n/v/d, fever, tachycardia
Motor/axonal peripheral neuropathy prox>distal, UE>LE
Radial nerve classically involved
decreased DTR
Severe can impact bulbar and respiratory

43
Q

Fragile X mutation, gene

A

CGG trinucleotide repeat

FMR1

44
Q

Rett syndrome inheritance, gene

A

X linked

MECP2

45
Q

Rett syndrome sx

A

hand wringing, stereotypies, hand/fist in mouth
arrest head growth, severe ID
sz, spasticity, scoliosis
dysautonomia with apneas

46
Q

Menkes disease inheritance, gene, defect

A

X linked
ATP7A
Defect copper transport intestine and blood-brain barrier

47
Q

Menkes disease sx

A

hypotonia, hypothermia, severe DD, sz
cerebral vasculopathy –> bleed, subdurals
Brittle coarse light hair, full cheeks
Bony prob (osteoporosis, bony dysplasia, metaphyseal dysplasia, spontaneous bone fractures)

48
Q

Menkes disease lab

A

low serum copper

low serum ceruloplasmin

49
Q

Williams syndrome mutation

A

Microdeletion chromosome 7

50
Q

Williams syndrome sx

A

Elfin facies, ID, very verbal, friendly with strangers
diabetes, supravalvular aortic stenosis
hearing loss, hyperacusis
elevated calcium

51
Q

Cri-du-chat mutation

A

microdeletion chr 5

Un, deux, trois, cat, sank

52
Q

Cri-du-chat sx

A

microcephaly, high cry
wid spaced eyes, epicanthal folds, mandib hypoplasia
VSD
severe ID, hyperactive, aggressive, repetitive behaviors

53
Q

Friedreich’s Ataxia mutation, gene, chromosome

A

trinucleotide repeat GAA
Rataxin gene
Chr 9

54
Q

Friedreich’s Ataxia age of onset

A

5-15yo

55
Q

Friedreich’s Ataxia sx

A

Neuro: Irregular gait, limb ataxia, loss proprioception/vibration, UMN signs, optic nerve atrophy

Skeletal (scoliosis, high arched feet)
Cardiac (conduction abnl, HCM)

56
Q

Machado-Joseph Disease AKA

A

SCA 3

57
Q

Machado-Joseph Disease mutation, gene, chromosome

A

CAG trinucleotide repeat
ATXN gene
Chr 14

58
Q

Machado-Joseph Disease sx

A

progressive ataxia OR dystonic rigid form

Bulging eyes, ophthalmoplegia, tongue atrophy, facial fasciculations, amyotrophy

59
Q

Hallervorden-Spatz enzyme, mechanism

A 
Pentathenate Kinase (PANK2)
Iron accumulation --> neurodegen
60
Q

Hallervorden-Spatz sx

A

episodic dystonia, facial grimace, dysphagia, poss spasticity

Pigmentary retinopathy, optic atrophy, retinal degeneration

61
Q

Joubert Syndrome sx

A

dvlp delay, ataxia, oculomotor apraxia, hypotonia
Irregular respiratory (apneas, irreg patterns)
Blindness (retinal disease)
Renal failure

62
Q

Joubert syndrome MRI

A

Molar tooth sign

Cbl vermis hypoplasia, lg 4th ventricle, abnl sup cbl peduncles

63
Q

Miller-Dieker syndrome gene

A

LIS1 (can also cause isolated lissencephaly)

64
Q

Miller-Dieker syndrome sx

A

Dvlp delay, spastic, sx
Microcephaly, micrognathia, low ears, short upturn notes, thin lip
Bitemporal hollowing, prominent forehead

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