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Krabbe disease: the importance of early diagnosis for prognosis.
[krabbe disease]
Krabbe
disease
(
globoid
cell
leukodystrophy
)
is
an
inherited
recessive
autosomal
leukodystrophy
caused
by
deficiency
of
the
enzyme
galactocerebrosidase
.
The
lack
of
this
enzyme
leads
to
the
build-up
of
galactolipids
that
will
promote
the
death
of
oligodendrocytes
and
the
demyelination
of
the
central
and
peripheral
nervous
systems
.
There
are
two
clinical
forms
:
early
onset
and
late
onset
.
This
article
reports
a
case
of
late
onset
Krabbe
disease
and
discusses
the
importance
of
early
diagnosis
for
its
prognosis
.
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
