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A random Abstract
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Our Team
Epilepsy in peroxisomal diseases.
[neonatal adrenoleukodystrophy]
To
clarify
the
electroclinical
manifestation
of
epileptic
seizures
and
the
evolution
of
epilepsy
in
patients
with
peroxisomal
diseases
.
Retrospective
review
of
the
medical
records
and
EEGs
of
14
patients
with
peroxisomal
diseases
:
seven
with
Zellweger
syndrome
(
ZS
)
,
two
with
neonatal
adrenoleukodystrophy
(
NALD
)
,
two
with
acyl-
CoA
oxidase
deficiency
(
AOXD
)
,
two
with
bifunctional
enzyme
deficiency
(
BFED
)
,
and
one
with
rhizomelic
chondrodysplasia
punctata
(
RCDP
)
.
The
diagnoses
were
made
by
biochemical
analysis
and
pathological
examinations
in
our
laboratory
.
Patients
manifested
serious
neurologic
deficits
in
the
neonatal
period
or
in
early
or
late
infancy
.
Patients
with
ZS
or
AOXD
had
partial
motor
seizures
originating
in
the
arms
or
legs
or
corners
of
the
mouth
.
Their
seizures
did
not
culminate
in
generalized
tonic-clonic
seizures
and
were
easily
controlled
by
antiepileptic
drugs
(
AEDs
)
.
Interictal
EEGs
of
the
patients
with
ZS
showed
infrequent
bilateral
independent
multifocal
spikes
,
predominantly
in
the
frontal
motor
cortex
and
its
surrounding
regions
.
The
EEGs
of
patients
with
AOXD
showed
interictal
fast
theta
activity
,
predominantly
in
the
frontocentral
regions
.
Patients
with
BFED
also
had
partial
motor
seizures
in
early
infancy
,
but
the
seizures
were
intractable
,
evolving
in
one
case
to
myoclonic
seizures
.
Interictal
EEGs
of
patients
with
BFED
showed
bilateral
independent
multifocal
spikes
that
evolved
to
bilateral
diffuse
high
-voltage
slow
waves
in
one
case
and
to
a
hypsarythmic
pattern
in
another
case
as
the
disease
progressed
.
Patients
with
NALD
had
intractable
tonic
seizures
or
epileptic
spasms
.
Interictal
EEGs
showed
high
-voltage
slow
waves
and
bilateral
independent
multifocal
spikes
,
evolving
in
one
patient
to
a
flat
pattern
.
The
patient
with
RCDP
,
whose
interictal
EEGs
showed
frequent
multifocal
independent
spikes
,
did
not
have
epileptic
seizures
.
The
age
of
epilepsy
onset
or
the
duration
of
survival
is
related
to
the
types
of
seizures
occurring
in
patients
with
peroxisomal
diseases
.
Neonates
or
young
infants
usually
have
partial
motor
seizures
(
facial
twitching
or
clonic
convulsions
of
the
arms
or
legs
)
of
various
multifocal
origins
.
Older
infants
may
have
generalized
seizures
at
the
onset
of
the
disease
or
evolutionally
.
Seizure
intractability
is
usually
less
severe
in
patients
with
ZS
or
AOXD
than
in
patients
with
NALD
or
BFED
.
There
is
no
relation
between
the
electroclinical
characteristics
of
epilepsy
and
the
genetic
complementation
groups
in
peroxisomal
diseases
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated