Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease].
[krabbe disease]
To
investigate
clinical
and
imaging
features
of
a
patient
with
adult-onset
Krabbe
disease
and
to
detect
the
underlying
genetic
mutations
.
Clinical
and
cranial
MRI
features
of
the
patient
were
analyzed
.
Pathogenesis
,
clinical
manifestation
,
cranial
MRI
features
and
diagnostic
criteria
for
the
disease
were
discussed
.
The
patient
had
presented
asymmetric
limb
weakness
and
difficulty
in
walking
.
Electromyography
suggested
peripheral
nerve
demyelination
.
Cranial
MRI
showed
increased
signal
intensity
in
white
matter
with
involvement
of
the
corticospinal
tracts
.
Screening
of
GALC
gene
mutation
has
found
the
patient
to
be
heterozygous
for
T
1685
C
(
Ile
562
Thr
)
and
homozygous
for
A
1921
G
(
Thr
641
A
la
)
,
both
of
which
were
considered
to
be
polymorphisms
.
In
addition
,
he
was
heterozygous
for
G
136
T
(
Asp
46
Tyr
)
,
which
had
not
been
described
previously
.
Clinical
manifestations
of
adult-onset
Krabbe
disease
may
be
atypical
.
Cranial
MRI
and
galactocerebroside
activity
assay
should
be
carried
out
for
patients
featuring
chronic
progressive
corticospinal
tract
injury
.
An
Asp
46
Tyr
mutation
probably
underlies
the
disease
in
the
current
case
.
Diseases
Validation
Diseases presenting
"difficulty in walking"
symptom
cystinuria
krabbe disease
lamellar ichthyosis
typhoid
This symptom has already been validated