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The clinical spectrum of nodular heterotopias in children: report of 31 patients.
[pyruvate dehydrogenase deficiency]
The
phenotypic
and
etiologic
spectrum
in
adults
with
nodular
heterotopias
(
NHs
)
has
been
well
characterized
.
However
,
there
are
no
large
pediatric
case
series
.
We
,
therefore
,
wanted
to
review
the
clinical
features
of
NHs
in
our
population
.
Hospital
records
of
31
patients
with
pathology
or
imaging-confirmed
NHs
were
reviewed
.
Two
-sided
Fisher
's
exact
t-test
was
used
to
assess
associations
between
distribution
of
NHs
and
specific
clinical
features
.
NHs
were
distributed
as
follows
:
8
(
26
%
)
unilateral
focal
subependymal
,
3
(
10
%
)
unilateral
diffuse
subependymal
,
5
(
16
%
)
bilateral
focal
subependymal
,
12
(
39
%
)
bilateral
diffuse
subependymal
,
and
3
(
10
%
)
isolated
subcortical
.
The
phenotypic
spectrum
in
our
population
differs
from
that
described
in
adults
.
Significant
morbidity
and
mortality
are
associated
with
presentation
in
childhood
.
Twenty
-
two
of
31
patients
(
71
%
)
died
in
the
neonatal
period
or
in
childhood
.
Additional
cerebral
malformations
were
found
in
80
%
and
systemic
malformations
in
74
%
.
The
majority
of
patients
had
developmental
delay
,
intellectual
deficit
,
and
intractable
epilepsy
.
Patients
with
unilateral
focal
NHs
were
more
likely
to
have
ventriculomegaly
(
p
=
0
.
027
)
,
and
those
with
bilateral
diffuse
NHs
more
likely
to
have
cerebellar
abnormalities
(
p
=
0
.
007
)
.
Isolated
subcortical
NHs
were
associated
with
multiple
malformations
(
p
=
0
.
049
)
and
cardiac
abnormalities
(
p
=
0
.
027
)
.
Underlying
etiology
was
heterogeneous
and
determined
in
only
six
cases
(
19
%
)
:
del
chr
1
p
36
,
del
chr
15
q
11
,
pyruvate
dehydrogenase
deficiency
,
sialic
acidosis
type
1
,
Aicardi
syndrome
,
and
FLNA
mutation
.
NHs
are
present
in
childhood
as
part
of
multiple
cerebral
and
systemic
malformations
;
developmental
delay
and
refractory
seizures
are
the
rule
rather
than
the
exception
.
Milder
forms
go
unrecognized
until
seizure
onset
in
adulthood
.
Diseases
Validation
Diseases presenting
"refractory seizures are the rule rather than the exception"
symptom
pyruvate dehydrogenase deficiency
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