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Congenital central hypoventilation syndrome and carbon dioxide sensitivity.
[hirschsprung disease]
Congenital
central
hypoventilation
syndrome
(
CCHS
)
is
characterised
by
hypoventilation
most
marked
during
sleep
and
is
often
associated
with
abnormalities
of
the
autonomic
nervous
system
.
We
report
an
infant
with
severe
CCHS
and
Hirschsprung
disease
in
whom
,
while
awaiting
genotyping
,
the
diagnosis
was
facilitated
by
the
results
of
a
carbon
dioxide
(
CO
2
)
sensitivity
study
in
the
neonatal
period
and
was
confirmed
by
paired-like
homeobox
2
B
(
PHOX
2
B
)
mutational
analysis
.
The
infant
had
no
ventilatory
response
to
increased
inspired
carbon
dioxide
levels
when
either
awake
or
asleep
suggesting
he
had
a
severe
form
for
CCHS
;
indeed
,
he
subsequently
demonstrated
to
have
the
20
/
31
genotype
.
This
is
the
first
case
report
of
a
genotype-confirmed
CCHS
disease
in
a
neonate
with
Hirschsprung
disease
further
characterised
by
a
ventilatory
challenge
.
Conclusion
:
CO
2
sensitivity
status
may
assist
in
determining
the
severity
of
the
CCHS
.
Diseases
Validation
Diseases presenting
"neonatal period"
symptom
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
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