Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[A novel mutation in PEX 26 gene in Zellweger syndrome: a case report].
[zellweger syndrome]
Zellweger
syndrome
is
the
most
severe
phenotype
of
the
peroxisome
biogenesis
disorders
caused
by
mutations
in
PEX
genes
.
PEX
1
,
6
and
26
genes
are
most
frequently
implicated
.
Clinical
phenotype
ca
n't
predict
the
mutated
gene
.
To
report
a
novel
mutation
in
the
PEX
26
gene
in
infant
with
typical
Zellweger
syndrome
.
the
infant
was
the
second
child
to
consanguineous
parents
;
the
1
st
child
was
dead
with
neonatal
hypotonia
.
At
two
month
of
age
,
we
noted
a
severe
hypotonia
and
growth
failure
,
characteristic
facial
dysmorphic
features
and
cryptorchidism
.
Sensorial
investigations
showed
optic
atrophy
.
Cerebral
tomography
revealed
white
matter
hypodensity
.
Radiological
examination
revealed
calcific
stippling
of
the
patellas
.
The
clinical
diagnosis
was
supported
by
measurement
of
plasma
very
-
long
-chain
fatty
acids
,
with
elevated
C
2
4
:
0
/
C
2
2
:
0
,
C
2
6
:
0
/
C
2
2
:
0
ratios
and
decreased
docosanoic
acid
peak
.
The
diagnosis
was
confirmed
by
dosage
of
DHAP-AT
activity
in
fibroblasts
which
was
very
low
.
Ultrastructural
examinations
showed
the
presence
of
peroxisomal
ghosts
.
Genetic
analysis
demonstrated
a
new
mutation
in
PEX
26
gene
.
The
death
occurred
at
the
age
of
8
months
of
refractor
epilepsy
and
apneas
.
The
poor
prognosis
of
ZS
incites
paediatricians
to
consider
this
disorder
in
etiological
investigations
of
precocious
hypotonia
.
Biochemical
diagnosis
,
available
in
Tunisia
,
offers
opportunity
of
prenatal
diagnosis
in
affected
families
.
