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Stem cell transplantation for adult-onset krabbe disease: report of a case.
[krabbe disease]
Krabbe
disease
is
an
autosomal
recessive
demyelinating
lysosomal
storage
disorder
caused
by
a
deficiency
of
galactocerebrosidase
.
The
adult-onset
variant
is
very
rare
.
Hematopoietic
stem
cell
transplantation
(
HSCT
)
is
reported
to
be
successful
in
treating
infants
with
Krabbe
disease
prior
to
the
onset
of
symptoms
,
but
there
are
no
reported
cases
of
its
use
for
adult-onset
disease
.
We
report
the
first
follow-up
data
for
a
patient
with
adult-onset
Krabbe
disease
who
underwent
HSCT
at
age
41
,
16
years
after
the
onset
of
symptoms
.
HSCT
resulted
in
a
sustained
normalization
of
peripheral
GALC
enzyme
activity
,
halted
the
progression
of
symptoms
at
24
months
post-allograft
,
and
led
to
improvements
in
gait
and
balance
.
Serial
imaging
also
confirmed
that
no
significant
progression
of
demyelination
has
occurred
.
Although
long
-term
follow-up
is
needed
to
confirm
the
effects
of
HSCT
,
our
24
-
month
results
suggest
that
HSCT
is
a
viable
therapeutic
option
for
symptomatic
patients
with
adult-onset
Krabbe
disease
.
