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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
"blindness"
symptom
aniridia
canavan disease
coats disease
cohen syndrome
congenital toxoplasmosis
cystinuria
dracunculiasis
fabry disease
gm1 gangliosidosis
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
oculocutaneous albinism
x-linked adrenoleukodystrophy
This symptom has already been validated