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[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
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated