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Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.
[alexander disease]
Alexander
disease
is
a
rare
disorder
of
the
central
nervous
system
with
characteristic
symmetric
white
matter
abnormalities
with
frontal
predominance
on
magnetic
resonance
(
MR
)
images
.
Histopathology
shows
a
lack
of
myelin
in
the
affected
white
matter
,
variably
interpreted
as
hypomyelination
or
demyelination
.
To
increase
our
insight
into
the
nature
of
the
pathology
leading
to
the
MR
imaging
findings
in
Alexander
disease
,
we
applied
serial
MR
imaging
,
spectroscopy
,
magnetization
transfer
(
MT
)
imaging
(
MTI
)
,
and
diffusion
tensor
imaging
(
DTI
)
in
six
patients
with
juvenile
Alexander
disease
.
The
MR
imaging
protocol
comprised
T
1
-
and
T
2
-
weighted
spin
echo
images
and
fluid-attenuated
inversion
recovery
images
.
Fractional
anisotropy
(
FA
)
,
apparent
diffusion
coefficient
(
ADC
)
,
and
MT
ratio
(
MTR
)
maps
were
generated
,
and
MR
spectroscopy
concentrations
were
quantified
for
several
metabolites
.
MR
imaging
showed
similar
cerebral
white
matter
abnormalities
in
all
patients
,
with
only
minor
increase
on
prolonged
follow-up
,
despite
sometimes
serious
clinical
progression
.
MR
spectroscopy
showed
highly
elevated
levels
of
myo-inositol
,
lactate
,
and
choline-containing
compounds
and
decreased
total
N-
acetyl-aspartate
and
N-
acetyl-aspartyl-glutamate
levels
in
the
abnormal
white
matter
.
High
values
of
ADC
were
observed
,
and
both
FA
and
MTR
were
attenuated
.
The
sequential
MR
imaging
findings
in
Alexander
disease
provide
strong
evidence
against
active
demyelination
as
sole
explanation
for
the
underlying
pathology
.
An
alternative
explanation
for
our
spectroscopic
,
DTI
,
and
MTI
findings-which
would
suggest
demyelination
-could
be
hyperplasia
and
hypertrophy
of
astrocytes
,
as
seen
in
low
grade
gliomas
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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