Rare Diseases Symptoms Automatic Extraction
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Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.
[hydrocephalus with stenosis of the aqueduct of sylvius]
L
1
CAM
molecule
is
a
cell
adhesion
molecule
in
nervous
and
enteric
systems
and
is
responsible
for
X-
linked
hydrocephalus
(
XLH
)
spectrum
,
which
is
a
rare
condition
with
severe
congenital
hydrocephalus
,
dysgenesis
of
the
corpus
callosum
,
intellectual
disability
,
spasticity
,
and
adducted
thumbs
.
Several
cases
of
XLH
accompanied
by
Hirschsprung
disease
(
HSCR
)
have
been
reported
in
the
literature
,
but
whether
HSCR
results
from
a
gain-of-function
mutation
in
cases
with
XLH
,
i
.
e
.
,
a
neomorphic
mutation
,
or
the
severe
end
of
the
L
1
CAM
mutation
spectrum
remains
unclear
.
The
present
patient
was
a
Japanese
boy
with
severe
congenital
hydrocephalus
with
aqueductal
stenosis
as
well
as
hypoplasia
of
the
corpus
callosum
.
HSCR
had
been
confirmed
by
a
biopsy
.
A
mutation
analysis
of
the
L
1
CAM
gene
showed
a
C
6
1
T
mutation
in
exon
1
,
resulting
in
a
truncating
nonsense
mutation
at
amino
acid
position
21
and
producing
an
extremely
short
protein
that
was
unlikely
to
interact
with
other
proteins
.
These
findings
suggest
that
XLH
-
HSCR
represents
the
severe
end
of
the
XLH
spectrum
,
rather
than
a
neomorphic
mutation
.
A
thorough
abdominal
investigation
to
rule
out
HSCR
should
be
considered
in
patients
with
XLH
accompanied
by
severe
constipation
.
Diseases
Validation
Diseases presenting
"hypoplasia of the corpus callosum"
symptom
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
monosomy 21
pyruvate dehydrogenase deficiency
This symptom has already been validated