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הרצאה 41- מחלות מטבוליות וניווניות של מערכת העצבים
הרצאה 41- מחלות מטבוליות וניווניות של מערכת העצבים
.X linked spastic paraplegia - spastic
paraparesia ) (pure
) ( -complicated
- . ) ( , )
( . ) PLP
( )
( . .
) (
.
Pelizaeus merzbacher like PLP
PLP-.
.
) -
( .
? )
( .
. )" (
.
,
) ( .
.
:Metachromatic leukodystrophy .
.
.aryl sulphatase A
"
.
:
LP- ) 100 (20 .
" ) ( .
MRI- - :
U .
MRI- , U )( .
.
:
) (infantile " .5
.
) (.
20-30
) (rigidity .
pseudoaryl sulphatase A deficiency pseudoaryl sulphatase A
aryl sulphatase A ) (.
-
-Torsion spasm
) (megacolon .abdominal distention ,
, .
-Choreoathetosis
- )
- (.
.Disartria
- -Tay-sacs disease -
- GM2 ) hexosaminidase A-
B sandoff
.(hepatosplenomegaly
.
" ".
.
:
) hyperacusis ( , )
, ( . ) , ( ,
, , , , ) ( .
retina) carry red spot (
. .
) (.
GM2- , ,' , )
( , . ,
.
,
, , ,ataxia ,
) ( ) ( .
.carry red spot
- .
, "
ataxia MRI- )
( . .
) ( . zaveska
.
-canavan
. 10- .
,
. N actyl aspartate
. N asparto acylase
) N actyl aspartate (NAA " )
.(MR spectroscopy- NAA- -
) spongyform leukodystrophy (.
) metacromatic-
leukodistrophy ( .
) (infantile 3-4 )
( . 6 - ) ( ,
. 3
.
:
,
) - ( , - ,
, , .
? :
: , ,nystagmus , ,
: chorioretinopathy , .
: , ,.
: ) rhizomelia (
:
-assembly
.1
. Zellwegers syndrome, neonatal :
adrenoleukodystrophy, infantile Refsum
X-linked adrenoleukodystrophy, pseudo- :
.2
Zellwegers syndrome
hyperpipecolic academia :
.3
.assembly
Zellwegers syndrome :cerebro-hepato-renal
. : , ,,
, , ,
, , , , , ,
, , . .