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A random Abstract
Our Project
Our Team
EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria.
[homocystinuria without methylmalonic aciduria]
We
performed
serial
electroencephalograms
(
EEG
)
in
a
newborn
with
methylmalonic
aciduria
and
homocystinuria
to
assess
the
effects
of
hydroxycobalamin
(
OHcbl
)
therapy
on
the
CNS
.
Diagnosis
was
made
at
22
days
of
age
:
she
had
torpor
,
failure
to
thrive
and
hypotonia
of
the
limbs
,
and
intermittent
opisthotonus
.
The
first
EEG
,
performed
on
the
first
day
of
therapy
,
showed
abnormal
and
immature
transients
,
low
voltage
and
very
long
flat
periods
in
the
discontinuous
part
of
the
tracing
.
These
features
quickly
improved
during
therapy
.
After
13
days
of
OHcbl
therapy
,
the
EEG
tracing
became
normal
for
conceptional
age
and
showed
normal
sleep
phases
with
only
minor
anomalies
;
only
mild
hypotonia
still
remained
and
biochemical
parameters
normalized
.
The
decrease
in
blood
homocysteine
(
index
of
blood
detoxification
)
was
statistically
correlated
to
the
reduction
of
the
length
of
flat
periods
in
EEG
(
p
<
0
.
01
)
.
In
conclusion
,
changes
in
neonatal
EEG
,
particularly
the
length
of
interburst
periods
in
the
intermittent
part
of
the
tracing
,
appeared
to
be
a
reliable
index
for
evaluating
drug
effectiveness
in
methylmalonic
aciduria
and
homocystinuria
.
