Rare Diseases Symptoms Automatic Extraction
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Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.
[x-linked adrenoleukodystrophy]
Childhood
cerebral
X-
linked
adrenoleukodystrophy
(
ALD
)
remains
one
of
the
most
devastating
neurological
diseases
of
childhood
.
Cardinal
features
are
inflammatory
cerebral
demyelination
that
coincides
with
an
advancing
zone
of
gadolinium
enhancement
on
brain
MRI
.
Therapeutic
options
,
including
the
role
of
antiinflammatory
therapy
,
are
limited
and
poorly
understood
.
We
report
the
failure
of
repeated
cyclophosphamide
pulse
therapy
to
halt
the
clinical
progression
or
alter
the
gadolinium
accumulation
in
two
cases
of
childhood
cerebral
ALD
.
Diseases
Validation
Diseases presenting
"demyelination"
symptom
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
locked-in syndrome
neonatal adrenoleukodystrophy
neuralgic amyotrophy
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
sneddon syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
