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DIU Neuro > maladies lysosomales neuro > Flashcards

maladies lysosomales neuro Flashcards

1
Q

diagnostic biochimique maladie de pompe

A

Maltase acide ou dosage GAA sanguin (= alpha glucosidase acide)

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2
Q

Traitement maladie de Pompe

A

Enzymothérapie

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3
Q

Diagnostic biochimique Krabbe

A

Galacto cérébrosidase

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4
Q

Diagnostic biochimique leucodystrophie métachromatique

A

Arylsulfatase

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5
Q

diagnostic biochimique de sandhoff

A

Hexosaminidase A et B

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6
Q

Diagnostic biochimique de Landing

A

(=GM1)
Dosage beta galactosidase

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7
Q

Diagnostic biochimique de Gaucher

A

Glucocérébrosidase

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8
Q

Galactocérébrosidase : quelle maladie

A

Krabbe
(vs Glucocérébrosidase = Gaucher)

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9
Q

Diagnostic biochimique Niemann Pick C

A

Oxystérols

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10
Q

Traitement de Niemann Pick

A

Inhibiteurs de substrats

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11
Q

Diagnostic biochimique de maladie de Farber

A

Céramidase acide

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12
Q

Ophtalmoplégie supranucléaire : quelles maladies ?

A

Gaucher : horizontal
Niemann Pick C : vertical

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13
Q

Clinique Niemann Pick C

A

Ataxie cérébelleuse
Atteinte pyramidale & extrapyramidale (dystonie)
Cataplexie gélastique
Ophtalmoplégie supranucléaire verticale
Dysarthrie, dysphagie
Epilepsie

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14
Q

Maladie de Gaucher : 3 types

A

1) Os + HSMG
2) Neuro seul (néonatal)
3) Neuro + Os + HSMG

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15
Q

Maladie gaucher type 2

A

Début néonatal, atteinte du tronc
Accès toniques en opisthotonos
Strabisme
Ophtalmoplégie supranucléaire horizontale
Tb déglutition, laryngospasme

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16
Q

Traitement maladie de Gaucher

A

Enzymothérapie (inhibiteur de substrat)

DIU Neuro (20 decks)

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