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Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.
[krabbe disease]
New
York
State
began
screening
for
Krabbe
disease
in
2006
to
identify
infants
with
Krabbe
disease
before
symptom
onset
.
Because
neither
galactocerebrosidase
activity
nor
most
genotypes
reliably
predict
phenotype
,
the
World
Wide
Registry
was
developed
to
determine
whether
other
clinical
/
neurodiagnostic
data
could
predict
early
infantile
Krabbe
disease
in
the
newborn
screening
population
.
Data
on
disease
course
,
galactocerebrosidase
activity
,
DNA
mutations
,
and
initial
neurodiagnostic
studies
in
67
symptomatic
children
with
early
infantile
Krabbe
disease
were
obtained
from
parent
questionnaires
and
medical
records
.
Initial
signs
included
crying
/
irritability
,
cortical
fisting
,
and
poor
head
control
.
Galactocerebrosidase
activity
was
uniformly
low
.
Eight
of
17
manifested
novel
mutations
.
Ninety
-
two
percent
(
n
=
25
)
exhibited
elevated
cerebrospinal
fluid
protein
;
76
%
(
n
=
42
)
demonstrated
abnormal
magnetic
resonance
images
;
67
%
(
n
=
15
)
exhibited
abnormal
computed
tomography
findings
;
43
%
(
n
=
28
)
produced
abnormal
electroencephalogram
findings
;
100
%
(
n
=
5
)
demonstrated
abnormal
nerve
conduction
velocities
;
83
%
(
n
=
6
)
produced
abnormal
brainstem
evoked
responses
;
and
50
%
(
n
=
6
)
exhibited
abnormal
visual
evoked
responses
.
One
,
2
,
and
3
year
survivals
were
60
%
,
26
%
,
and
14
%
,
respectively
.
Although
most
symptomatic
patients
with
the
early
infantile
phenotype
manifested
abnormal
cerebrospinal
fluid
protein
,
magnetic
resonance
imaging
,
brainstem
evoked
responses
,
and
nerve
conduction
velocities
,
studies
of
affected
children
may
be
normal
.
Other
biomarkers
are
needed
to
predict
phenotype
in
the
newborn
screening
population
.
Diseases
Validation
Diseases presenting
"early infantile phenotype"
symptom
krabbe disease
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