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Hot topics in Neurology and Psychiatry > Child Neurology > Flashcards

Child Neurology Flashcards

1
Q

child neurology vroeger vs nu

A

meer kinderen krijgen een diagnose, meer collaboration en meer treatments

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2
Q

in nederland

A

elk centra heeft zijn eigen focus

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3
Q

amsterdam..

A

white matter disorders -> inherited leukodystrophies, neonatal and spasticity

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4
Q

leukodystrophies…

A

genetic disorders -> defect in the genes involved in the maintainance and growth of myelin. age of onset: infancy-adulthood. main tool for diagnosis is MRI

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5
Q

white matter is…

A

de axonen van neuronen, glia cellen etc.

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6
Q

difficulties with research in children

A
  • ethical issues
  • communication with the children
  • still under development: ziekte die rond 2 jaar opkomt is compleet anders dan dezelfde ziekte rond 4 jaar
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7
Q

the brain myelinates within…

A

the first 2 years

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8
Q

neonatal white matter…

A

low t1 signal, high t2 signal

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9
Q

myelinated white matter…

A

high t1 signal, low t2 signal

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10
Q

t2 is sensitive for high/low myelin

A

low

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11
Q

dus je kan HM goed zien via…

A

t2, want hier is myelin amount low en dit vang je goed op met een t2. hier is het myeline donkerder. Bij een t1 is het myeline lichter, hiermee kan je goed myeline zien in non-ms patienten

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12
Q

hoe zie je HM dus op een t2 mri scan?

A

hyperintensitivity! dus heel fel

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13
Q

hypomyelination symptomen

A
  • nystagmus -> oogafwijking, dat ze heel snel heen en weer gaan
  • wheelchair dependency
  • spasticity, mixed movement disorder
  • ataxia -> onregelmatige en onhandige bewegingen van de romp en ledematen
  • mental redartation
  • reduced life expectancy
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14
Q

genetic predisposition hypomyelination

A

plp1 alteration, minder abundant myelin protein

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15
Q

de clinical presentation van hypomyelination verschilt heel erg!

A

oke

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16
Q

wat is de biologische afwijking van HM van de ziekte?

A

myeline loss, daardoor worden axonen niet meer beschermd en kunnen deze dus aangetast worden (conduction, protection, nutrients)

17
Q

3 reserach questions

A
  • what are the genetic causes?
  • what is the basis of the clinical variability between patients?
  • explanation for decline after years of stable disease?
18
Q

HS is niet hetzelfde als MS!!!

A

dit gaat namelijk om loss of a protein. Bij multiple sclerosis wordt het zenuwstelsel aangevallen.

19
Q

hypomyelination with brainstem and spinal cord involvement and leg spasticity is caused by mutations in..

A

DARS

20
Q

het is een..

A

autosomal recessive disesase

21
Q

DARS encodes..

A

a tRNA synthetase

22
Q

waar zit de hypomyelination vooral in HBSL

A

brain stem

23
Q

waar staat HBSL voor

A

hypomyelination with brain stem and spinal cord involvement and leg spasticity

24
Q

wie maken myeline in CNS

A

oligodendrocytes

25
Q

wie maken myeline in PNS

A

schwann cells

26
Q

metachromatic leukodystrophy

A

MLD, lysosomal storage disorder, autosomal recessive

27
Q

wat is de disease pathology van MLD

A

weinig arylsulfatase a -> accumulation of sulfatides in membranes of myelin. dit enzym zorgt voor demyelination.

28
Q

verschilllende soorten onset

A

late infantile (< 30 months)
juvenile (30 months-16 years)
adult (16 years or older)

29
Q

early onset symptomen

A

motor symptoms, rapid progression

30
Q

late onset

A

cognitive symptoms

31
Q

diagnosis:

A

dots and later on in life atrophy

32
Q

treatment options

A
  • allogenic hematopoietic stem cell transplantation. dan krijgen ze chemo en daarna transplantation of donor cells die weer productie en secretie van ASA. kan maar bij 1/3 van de patienten.
  • ex vivo gene therapy
  • intrathecal enzyme replacement ERT
33
Q

ex vivo gene therapy

A

overexpression of arylsulfatase a in modified macrophages -> effective bij jonge kidneren

34
Q

intrathecal enzyme replacement ERT

A

asa injection into the CSF.

35
Q

what have we learned from MLD?

A

ØThere are markers helping decide whether or not it is too late for transplantation (IQ, NAA).ØMLD has variants with only mildly affected motor function and no/mild neuropathy (depending on the mutations in the ARSAgene).ØTransplantedbonemarrow cells migrate to the brain and produce arylsulfatase A there, but this is not taken up by brain cells.ØTransplanted bone marrow cells have an anti-inflammatory neuroprotective effect.ØRemyelination after transplantation is possible.ØGrey matter is not (sufficiently) targeted by transplantation.

Hot topics in Neurology and Psychiatry (50 decks)

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