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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
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated