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Zellweger syndrome and secondary mitochondrial myopathy.
[zellweger syndrome]
Defects
in
peroxisomes
such
as
those
associated
with
Zellweger
syndrome
(
ZS
)
can
influence
diverse
intracellular
metabolic
pathways
,
including
mitochondrial
functioning
.
We
report
on
an
8
-
month
-old
female
infant
and
a
6
-
month
-old
female
infant
with
typical
clinical
,
radiological
and
laboratory
features
of
Zellweger
syndrome
;
light
microscopic
and
ultrastructural
evidence
of
mitochondrial
pathology
in
their
muscle
biopsies
;
and
homozygous
pathogenic
mutations
of
the
PEX
16
gene
(
c
.
460
 
+
 
5
G
 
>
 
A
)
and
the
PEX
12
gene
(
c
.
888
_
889
del
p
.
Leu
297
Thrfs
*
12
)
,
respectively
.
Additionally
,
mitochondrial
respiratory
chain
enzymology
analysis
in
the
first
girl
showed
a
mildly
low
activity
in
complexes
II
-
III
and
IV
.
We
also
review
five
children
previously
reported
in
the
literature
with
a
presumptive
diagnosis
of
ZS
and
additional
mitochondrial
findings
in
their
muscle
biopsies
.
In
conclusion
,
this
is
the
first
study
of
patients
with
a
molecularly
confirmed
peroxisomal
disorder
with
features
of
a
concomitant
mitochondrial
myopathy
and
underscores
the
role
of
secondary
mitochondrial
dysfunction
in
Zellweger
syndrome
,
potentially
contributing
to
the
clinical
phenotype
.
