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Zellweger syndrome - a lethal peroxisome biogenesis disorder.
[zellweger syndrome]
Zellweger
syndrome
(
ZS
)
is
the
severest
variety
of
peroxisomal
biogenesis
disorder
(
PBD
)
.
This
is
a
fatal
hereditary
,
autosomal
recessive
disorder
.
It
is
characterized
by
the
absence
of
peroxisomes
in
the
cells
which
are
essential
for
many
metabolic
functions
especially
beta
oxidation
of
very
long
chain
fatty
acids
(
VLCFAs
)
.
We
report
the
case
of
a
female
Saudi
toddler
.
She
presented
with
dysmorphism
,
profound
hypotonia
,
psychomotor
retardation
,
seizures
,
and
loss
of
hearing
and
vision
with
findings
of
optic
atrophy
.
Biochemical
study
revealed
significantly
elevated
level
of
VLCFAs
,
cerotic
acid
and
phytanic
acid
.
She
also
had
periventricular
leukomalacia
and
abnormal
electroencephalography
results
and
a
PEX
1
gene
mutation
.
The
clinical
data
and
investigations
were
consistent
with
ZS
.
As
it
is
fatal
in
early
life
,
genetic
counseling
and
prenatal
diagnosis
are
thus
crucial
.
Diseases
Validation
Diseases presenting
"and loss of hearing and vision with findings of optic atrophy"
symptom
zellweger syndrome
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