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[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system].
[homocystinuria without methylmalonic aciduria]
Metabolic
diseases
of
the
nervous
system
vary
considerably
in
their
clinical
and
pathological
aspects
.
In
neurological
presentations
of
these
disorders
dominate
mental
retardation
and
epileptic
syndrome
.
We
have
studied
27
patients
of
age
from
3
months
to
3
years
:
PKU
-
-
15
cases
;
homocystinuria
-
-
4
;
hyper-prolinemia
-
-
1
;
methylmalonic
acidemia
-
-
5
and
combined
disorders
-
-
2
.
Epileptic
syndrome
was
revealed
in
21
patients
,
mental
retardation
in
1
,
spasticity
in
5
and
ataxia
in
1
patient
.
Epileptic
syndrome
was
presented
with
generalized
seizures
(
grand
mal
-
-
6
cases
,
myoclonic
absences
-
-
13
cases
)
and
partial
seizures
(
simple
motor
-
-
2
cases
)
.
Investigations
did
not
found
reliable
correlations
between
certain
forms
of
enzymophaties
and
EEG
patterns
.
Patients
were
treated
by
pathogenic
(
dietary
management
with
protein-modified
diet
and
vitamin
therapy
)
and
symptomatic
(
anticonvulsants
)
treatment
.
We
have
achieved
the
positive
therapeutic
effect
by
pathogenic
and
anticonvulsive
treatment
in
11
patients
.
All
these
patients
were
from
the
first
group
(
1
-
3
year
)
.
The
best
outcome
was
observed
in
the
cases
of
the
early
diagnosed
PKU
.
The
most
severe
mental
retardation
and
resistant
epilepsy
were
revealed
in
patients
with
combined
disorders
of
metabolism
and
vitamin
-non-responsive
forms
of
MMA
and
HCS
.
