Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies.
[neonatal adrenoleukodystrophy]
The
purpose
of
this
study
is
to
explore
and
compare
epileptic
seizures
and
EEG
evolution
in
the
various
types
of
genetic
leukodystrophy
(
GL
)
.
The
authors
reviewed
the
medical
records
and
analyzed
69
serial
EEGs
in
27
patients
with
GLs
:
13
with
late
infantile
metachromatic
leukodystrophy
,
one
with
juvenile
metachromatic
leukodystrophy
,
one
with
globoid
cell
leukodystrophy
,
six
with
X-
linked
childhood
adrenoleukodystrophy
,
one
with
neonatal
adrenoleukodystrophy
,
four
with
classic
Pelizaeus-
Merzbacher
disease
(
PMD
)
,
and
1
with
connatal
Pelizaeus-
Merzbacher
disease
.
The
diagnoses
were
made
by
biochemical
and
molecular
studies
.
Two
or
more
EEG
studies
with
both
awake
and
sleep
traces
were
recorded
during
the
varying
clinical
stages
for
each
patient
.
At
the
beginning
of
the
GLs
,
the
EEGs
were
normal
or
showed
mild
slowing
of
background
activity
.
Clinical
seizures
,
mainly
of
focal
origin
,
with
progressive
slowing
and
paroxysmal
discharges
on
EEGs
,
usually
appeared
during
the
later
stages
of
metachromatic
leukodystrophy
,
X-
linked
childhood
adrenoleukodystrophy
,
and
classic
Pelizaeus-
Merzbacher
disease
.
However
,
intractable
seizures
,
mainly
generalized
in
nature
,
and
more
severe
slowing
and
abundant
paroxysmal
discharges
on
EEGs
,
with
commensurate
neurologic
deterioration
,
were
observed
during
the
earlier
course
of
globoid
cell
leukodystrophy
,
neonatal
adrenoleukodystrophy
,
and
connatal
Pelizaeus-
Merzbacher
disease
.
These
results
indicate
that
GLs
involve
not
only
white
matter
,
but
gray
matter
as
well
.
In
all
types
of
GL
,
there
is
good
correlation
between
the
severity
of
EEG
changes
,
the
severity
of
the
diseases
,
and
the
clinical
state
of
the
patient
.
Diseases
Validation
Diseases presenting
"were observed during the earlier course of globoid cell leukodystrophy"
symptom
neonatal adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom