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Peripheral neuropathy in late-onset Krabbe disease: report of three cases.
[krabbe disease]
Late
-onset
Krabbe
disease
may
have
variable
misleading
clinical
manifestations
and
be
a
puzzling
problem
for
physicians
.
We
report
clinical
and
peripheral
nerve
studies
of
three
patients
with
adult-onset
Krabbe
disease
.
Two
cases
had
a
predominantly
spastic
paraparesis
;
in
one
case
,
the
symptoms
mimicked
a
cerebrovascular
disorder
.
Predominantly
,
demyelinating
neuropathy
was
observed
in
one
case
and
axonal
neuropathy
in
two
cases
.
In
all
cases
,
no
typical
intracytoplasmic
inclusions
were
found
.
These
observations
suggest
that
peripheral
neuropathy
in
adult-onset
Krabbe
disease
has
variable
clinical
and
pathological
characteristics
,
different
from
those
described
in
the
classic
form
.
Diseases
Validation
Diseases presenting
"neuropathy"
symptom
adrenomyeloneuropathy
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
fabry disease
focal myositis
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
inclusion body myositis
krabbe disease
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neuralgic amyotrophy
oculocutaneous albinism
pendred syndrome
phenylketonuria
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
thoracic outlet syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated