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[Clinical symptoms of generalized peroxisomal disorders].
[neonatal adrenoleukodystrophy]
In
generalized
peroxisomal
disorders
,
the
clinical
picture
is
not
always
obvious
enough
to
orientate
the
diagnosis
at
an
early
stage
of
the
disease
.
Although
classic
Zellweger
syndrome
can
seldom
be
misdiagnosed
,
unless
we
ignore
this
kind
of
pathology
altogether
,
the
other
phenotypes
(
neonatal
adrenoleukodystrophy
and
infantile
Refsum
disease
)
are
not
always
clearly
delineated
.
Above
all
,
the
diagnosis
may
be
difficult
if
we
expect
the
patient
to
closely
correspond
to
the
cerebro-hepato-
renal
syndrome
prototype
.
Thus
,
we
must
establish
a
series
of
crucial
signs
and
symptoms
that
,
taken
together
,
make
us
suspect
a
peroxisomal
disease
and
order
the
corresponding
biochemical
screening
.
In
our
experience
,
craniofacial
dysmorphia
may
be
misleading
in
the
less
severe
phenotypes
and
is
probably
the
most
subjective
feature
.
In
contrast
,
an
infant
with
widely
open
fontanels
and
axial
hypotonia
,
in
special
if
failure
to
thrive
and
/
or
hepatomegaly
are
associated
,
must
be
considered
suspicious
enough
to
make
us
think
of
a
peroxisomal
disorder
and
perform
a
metabolic
screening
.
Later
on
in
life
,
the
neurological
picture
and
psychomotor
delay
become
more
and
more
clear
,
and
sensorineural
blindness
and
deafness
are
virtually
constant
.
Diseases
Validation
Diseases presenting
"craniofacial dysmorphia"
symptom
neonatal adrenoleukodystrophy
proteus syndrome
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