Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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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
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated