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Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.
[krabbe disease]
Globoid
cell
leukodystrophy
(
GLD
,
also
known
as
Krabbe
disease
)
,
whose
pathophysiology
is
still
not
completely
elucidated
,
is
an
inherited
,
metabolic
,
and
neurodegenerative
disease
,
caused
by
the
deficiency
of
β-galactocerebrosidase
(
GALC
)
or
in
very
rare
cases
by
lack
of
active
saposin
A
.
We
describe
two
patients
,
in
whom
first
MRI
changes
were
not
suggestive
of
GLD
.
Additionally
,
in
Patient
1
,
the
residual
β-galactocerebrosidase
activity
was
rather
high
leading
to
difficulties
in
the
diagnosing
process
.
Molecular
analysis
of
the
GALC
and
PSAP
genes
in
Patient
1
,
and
of
the
GALC
gene
in
Patient
2
confirmed
the
diagnosis
of
Krabbe
disease
.
We
have
detected
a
novel
mutation
in
the
GALC
gene
in
Patient
2
,
a
deletion
in
exon
16
,
leading
to
the
STOP
codon
(
c
.
1851
delT
,
p
.
Y
617
X
)
.
This
deletion
interrupts
the
reading
frame
prematurely
:
codon
617
is
replaced
by
a
STOP
codon
.
A
careful
clinical
description
of
presented
patients
is
followed
by
a
discussion
of
radiological
,
biochemical
,
genetic
,
and
neuropathological
studies
.
It
concludes
with
a
discussion
of
the
potential
difficulties
encountered
when
diagnosing
patients
with
rare
diseases
.
In
Patient
1
the
postmortem
examination
of
CNS
revealed
the
presence
of
globoid
cells
grouped
in
multiple
clusters
seen
in
the
white
matter
near
the
vessels
.
We
would
like
to
emphasize
that
proper
clinical-radiological-biochemical
co
-operation
and
exchange
of
information
between
parents
and
specialists
is
a
key
issue
in
the
diagnosis
of
rare
and
difficult
neurological
diseases
,
in
particular
,
if
the
clinical
picture
is
inconclusive
.
Diseases
Validation
Diseases presenting
"white matter near the vessels"
symptom
krabbe disease
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