epilepsia in boli metabolice [Compatibility Mode]
epilepsia in boli metabolice [Compatibility Mode]
epilepsia in boli metabolice [Compatibility Mode]
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Boala Ta Tay Sachs<br />
Epilepsie mioclonica, absente atipice, convulsii<br />
motorii<br />
Semne cerebeloase, extrapiramidale,<br />
encefalopatie, atrofie musculara sp<strong>in</strong>ala,<br />
dismorfisme, pete ret<strong>in</strong>iene rosu-cireasa<br />
rosu cireasa<br />
Gangliozidoza GM2, deficit de hexozam<strong>in</strong>idaza<br />
A<br />
Autozomal recesiva<br />
Mutatie a genei HEXA de pe cromozomul 15<br />
Diagnostic: hexozam<strong>in</strong>idaza este redusa <strong>in</strong> ser,<br />
leucocite si fibroblaste; limfocite vacuolizate