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Clinical approach to inherited peroxisomal disorders: a series of 27 patients.
[neonatal adrenoleukodystrophy]
To
illustrate
the
clinical
and
biochemical
heterogeneity
of
peroxisomal
disorders
,
we
report
our
experience
with
27
patients
seen
personally
between
1982
and
1997
.
Twenty
patients
presented
with
a
phenotype
corresponding
either
to
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
or
infantile
Refsum
disease
,
3
of
whom
had
a
peroxisomal
disorder
due
to
a
single
enzyme
defect
.
One
patient
had
a
mild
form
of
rhizomelic
chondrodysplasia
punctata
,
1
had
classic
Refsum
disease
.
Finally
,
5
patients
presented
with
clinical
manifestations
that
were
either
unusually
mild
or
completely
atypical
,
and
initially
did
not
arouse
suspicion
of
a
peroxisomal
disorder
.
They
showed
multiple
defects
of
peroxisomal
functions
with
one
or
several
functions
remaining
intact
,
suggesting
a
peroxisome
biogenesis
disorder
.
The
defect
in
peroxisome
biogenesis
was
further
characterized
by
variable
expression
in
different
tissues
and
/
or
individual
cells
in
5
patients
.
Studies
restricted
to
fibroblasts
failed
to
identify
abnormalities
in
this
group
.
We
demonstrate
that
clinical
manifestations
of
peroxisomal
disorders
may
be
very
mild
or
completely
atypical
,
and
therefore
,
peroxisomal
disorders
should
be
considered
in
a
variety
of
clinical
settings
.
Furthermore
,
we
suggest
performing
extensive
peroxisomal
investigations
in
every
patient
suspected
of
suffering
from
a
peroxisomal
disorder
,
even
when
the
clinical
presentation
is
typical
.
Diseases
Validation
Diseases presenting
"abnormalities in this group"
symptom
neonatal adrenoleukodystrophy
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