Rare Diseases Symptoms Automatic Extraction
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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
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated