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DIU Neuro > Myopathies métaboliques > Flashcards

Myopathies métaboliques Flashcards

1
Q

Déficit en enzyme trifonctionnelle : clinique

A

rhabdomyolyse récidivante
neuropathie sensitivo motrice à début précoce
-> ressemble à un CMT mais CPK élevées en poussée

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2
Q

McArdle : phénomène évocateur

A

Second souffle

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3
Q

Mcardle : nom

A

Glycogénose 5

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4
Q

Diagnostic Pompe

A

Dosage de la maltase acide

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5
Q

Indication dosage maltase acide

A

Pompe :
CPK élevées à tout âge
déficit moteur des ceintures
cardiomyopathie avec hypotonie

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6
Q

Diagnostic mcardle

A

Biopsie musculaire
Génétique

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7
Q

Rhabdomyolyse avec trigger fébrile qui finit en réa :

A

Lipine
CPK >50000, jeune enfant, fièvre

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8
Q

Lipine : tableau clinique

A

Rhabdomyolyse >50000 U/L
trigger fébrile, infectieux, AG
Troubles du rythme en réa

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9
Q

Lipine : anapath

A

Infiltration graisseuse du muscle cardiaque

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10
Q

Biopsie musculaire quand rhabdomyolyse aiguë

A

Inutile, attendre au moins 1 mois

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11
Q

Rhabdomyolyse aiguë : examens clé

A

Iono, gaz, lactate
Ammoniémie
Profil acylcarnitine
Points redox
CAOu, myoglobinurie, cétonurie

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12
Q

Rhabdomyolyse fébrile : penser à

A

Betaox
Lipine

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13
Q

biopsie musculaire de mitochondrie

A

ragged red fibers

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14
Q

Tango2 : tableau clinique

A

Dystonie
Retard
Hépatomégalie
Rhabdomyolyse aiguë (non secondaire à la dystonie)

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15
Q

rhabdomyolysie à >10000 avec bilan Métabo normal : penser à

A

lipine
tango

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DIU Neuro (20 decks)

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