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Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
[hydrocephalus with stenosis of the aqueduct of sylvius]
L
1
syndrome
results
from
mutations
in
the
L
1
CAM
gene
located
at
Xq
28
.
It
encompasses
a
wide
spectrum
of
diseases
,
X-
linked
hydrocephalus
being
the
most
severe
phenotype
detected
in
utero
,
and
whose
pathophysiology
is
incompletely
understood
.
The
aim
of
this
study
was
to
report
detailed
neuropathological
data
from
patients
with
mutations
,
to
delineate
the
neuropathological
criteria
required
for
L
1
CAM
gene
screening
in
foetuses
by
characterizing
the
sensitivity
,
specificity
and
positive
predictive
value
of
the
cardinal
signs
,
and
to
discuss
the
main
differential
diagnoses
in
non-mutated
foetuses
in
order
to
delineate
closely
related
conditions
without
L
1
CAM
mutations
.
Neuropathological
data
from
138
cases
referred
to
our
genetic
laboratory
for
screening
of
the
L
1
CAM
gene
were
retrospectively
reviewed
.
Fifty
-
seven
cases
had
deleterious
L
1
CAM
mutations
.
Of
these
,
100
%
had
hydrocephalus
,
88
%
adducted
thumbs
,
98
%
pyramidal
tract
agenesis
/
hypoplasia
,
90
%
stenosis
of
the
aqueduct
of
Sylvius
and
68
%
agenesis
/
hypoplasia
of
the
corpus
callosum
.
Two
foetuses
had
L
1
CAM
mutations
of
unknown
significance
.
Seventy
-
nine
cases
had
no
L
1
CAM
mutations
;
these
were
subdivided
into
four
groups
:
(
1
)
hydrocephalus
sometimes
associated
with
corpus
callosum
agenesis
(
44
%
)
;
(
2
)
atresia
/
forking
of
the
aqueduct
of
Sylvius
/
rhombencephalosynapsis
spectrum
(
27
%
)
;
(
3
)
syndromic
hydrocephalus
(
9
%
)
,
and
(
4
)
phenocopies
with
no
mutations
in
the
L
1
CAM
gene
(
20
%
)
and
in
whom
family
history
strongly
suggested
an
autosomal
recessive
mode
of
transmission
.
These
data
underline
the
existence
of
closely
related
clinical
entities
whose
molecular
bases
are
currently
unknown
.
The
identification
of
the
causative
genes
would
greatly
improve
our
knowledge
of
the
defective
pathways
involved
in
these
cerebral
malformations
.
Diseases
Validation
Diseases presenting
"88"
symptom
hydrocephalus with stenosis of the aqueduct of sylvius
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