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Anaesthesia for the patient with neonatal adrenoleukodystrophy.
[neonatal adrenoleukodystrophy]
The
authors
present
and
discuss
the
care
of
a
nine
-
month
-old
with
neonatal
adrenoleukodystrophy
who
required
general
anaesthesia
for
gastrointestinal
endoscopy
.
Neonatal
adrenoleukodystrophy
is
an
inherited
disorder
of
peroxisomal
enzymes
.
Anaesthetic
care
may
be
affected
by
the
presence
of
hypotonia
,
liver
function
abnormalities
,
gastroesophageal
reflux
,
and
impaired
adrenocortical
function
.
Preoperative
sedation
is
contraindicated
because
of
the
risk
of
precipitating
airway
obstruction
due
to
pre-existing
hypotonia
.
Anaesthetic
induction
and
tracheal
intubation
should
be
performed
to
minimize
the
risk
for
aspiration
of
gastric
contents
.
The
choice
of
muscle
relaxant
should
take
into
account
the
pre-existing
hypotonia
as
well
as
the
possibility
of
hyperkalaemia
in
response
to
succinylcholine
.
Anaesthetic
agents
known
to
decrease
the
seizure
threshold
should
be
avoided
in
patients
with
a
seizure
disorder
.
In
addition
,
anaesthetic
agents
that
rely
on
the
liver
for
metabolism
should
be
used
with
caution
in
patients
with
cirrhosis
.
When
time
permits
,
these
patients
should
be
screened
for
adrenocortical
insufficiency
before
surgery
,
and
perioperative
steroid
coverage
is
advisable
when
preoperative
testing
of
adrenocortical
function
is
not
feasible
.
While
these
patients
eventually
die
after
progressive
deterioration
,
full
recovery
from
the
effects
of
anaesthesia
and
surgery
can
be
achieved
with
attention
to
neurological
,
metabolic
,
and
physical
problems
.
Diseases
Validation
Diseases presenting
"seizure"
symptom
alexander disease
canavan disease
cohen syndrome
cowden syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
neonatal adrenoleukodystrophy
pendred syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
This symptom has already been validated