Rare Diseases Symptoms Automatic Extraction
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Late onset white matter disease in peroxisome biogenesis disorder.
[neonatal adrenoleukodystrophy]
To
report
late
onset
cerebral
white
matter
disease
as
a
distinctive
phenotype
in
peroxisome
biogenesis
disorder
(
PBD
)
.
There
is
phenotypic
and
genetic
overlap
among
the
PBD
known
as
Zellweger
syndrome
(
ZS
)
,
infantile
Refsum
disease
(
IRD
)
,
and
neonatal
adrenoleukodystrophy
(
NALD
)
.
Distinctive
external
features
are
variable
among
these
three
disorders
,
and
neurologic
deficit
has
its
onset
at
birth
or
in
infancy
.
In
a
structured
follow-up
cohort
of
25
patients
with
PBD
,
not
including
ZS
,
three
patients
had
an
unusual
pattern
of
cerebral
white
matter
disease
with
onset
past
the
age
of
1
,
not
conforming
to
any
of
the
classic
PBD
phenotypes
.
Clinical
phenotyping
and
follow-up
,
peroxisomal
biochemical
determinations
in
body
fluids
and
fibroblasts
,
identification
of
affected
PEX
gene
by
genetic
complementation
in
fibroblasts
,
and
MRI
studies
.
Two
unrelated
patients
with
PBD
without
distinctive
external
features
had
normal
neurodevelopmental
milestones
during
their
first
year
,
followed
by
rapid
deterioration
including
severe
hypotonic
pareses
,
seizures
,
retinopathy
,
and
deafness
.
A
third
patient
initially
diagnosed
with
IRD
developed
cerebral
white
matter
degeneration
in
the
third
year
of
life
,
complicating
the
original
diagnosis
.
MRI
in
all
three
patients
showed
cerebral
demyelination
with
sparing
of
subcortical
fibers
and
pronounced
central
cerebellar
demyelination
.
Late
-onset
cerebral
white
matter
disease
may
occur
in
PBD
,
either
following
IRD
or
following
normal
early
development
and
in
the
absence
of
distinctive
external
features
.
Peroxisome
biogenesis
disorder
should
be
included
in
the
differential
diagnosis
of
post-
infantile
onset
of
cerebral
white
matter
disease
Diseases
Validation
Diseases presenting
"retinopathy"
symptom
alpha-thalassemia
cadasil
cholangiocarcinoma
coats disease
cohen syndrome
congenital toxoplasmosis
cowden syndrome
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
oculocutaneous albinism
pyomyositis
sneddon syndrome
von hippel-lindau disease
waldenström macroglobulinemia
This symptom has already been validated