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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
"severe congenital"
symptom
aniridia
congenital diaphragmatic hernia
harlequin ichthyosis
hydrocephalus with stenosis of the aqueduct of sylvius
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pyruvate dehydrogenase deficiency
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