Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome.
[wolf-hirschhorn syndrome]
Pitt-
Hopkins
syndrome
is
a
rare
genetic
form
of
severe
psychomotor
delay
,
caused
by
mutations
in
transcription
cell
factor
-
4
gene
and
characterized
by
distinctive
dysmorphic
features
and
abnormal
breathing
pattern
.
The
current
report
describes
the
polygraphic
features
of
the
syndrome
's
typical
breathing
pattern
in
a
patient
both
in
wakefulness
and
in
sleep
.
The
control
of
these
breathing
alterations
is
important
to
prevent
the
neurological
sequelae
linked
to
chronic
cerebral
hypoxemia
in
early
ages
.
No
data
are
available
on
effective
treatment
options
for
breathing
abnormalities
of
Pitt-
Hopkins
syndrome
.
The
authors
polygraphically
documented
a
reduction
of
apneic
and
hypopneic
phenomena
,
with
a
significant
improvement
in
saturation
values
,
after
the
introduction
of
sodium
valproate
.
Diseases
Validation
Diseases presenting
"hypoxemia in early ages"
symptom
wolf-hirschhorn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom