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Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.
[homocystinuria without methylmalonic aciduria]
To
describe
epilepsy
and
EEG
findings
in
the
early
-onset
cobalamin
(
Cbl
)
C
/
D
deficiency
,
an
inborn
error
of
intracellular
Cbl
metabolism
characterized
by
high
plasma
levels
of
methylmalonic
acid
,
homocystine
,
and
homocysteine
.
T
ype
and
frequency
of
seizures
were
studied
in
10
patients
(
six
boys
and
four
girls
)
who
underwent
waking
and
sleep
EEG
.
Half
of
patients
had
seizures
in
the
first
year
of
life
(
either
concurrent
with
the
other
symptoms
of
disease
or
some
months
after
the
onset
of
disease
)
;
seizures
occurred
after
2
years
in
the
other
half
of
patients
.
Convulsive
status
epilepticus
was
the
initial
manifestation
in
three
patients
.
During
the
follow-up
,
nine
patients
had
seizures
(
mainly
partial
)
despite
specific
treatment
for
Cbl
C
/
D
deficiency
and
antiepileptic
drugs
.
Focal
or
multifocal
epileptiform
abnormalities
during
waking
EEG
that
increased
during
sleep
EEG
were
recorded
in
the
majority
of
patients
.
Plasma
levels
of
homocystine
and
homocysteine
were
constantly
higher
than
normal
,
despite
therapy
institution
.
Epilepsy
and
EEG
abnormalities
are
prominent
features
in
the
early
-onset
type
of
combined
methylmalonic
aciduria
and
homocystinuria
due
to
Cbl
C
/
D
deficiency
,
possibly
related
to
the
pathologically
and
persistently
high
levels
of
homocysteine
,
experimentally
proven
to
induce
seizures
.
Plasma
amino
acids
evaluation
and
urinary
acid
organic
analysis
should
be
performed
in
any
infant
showing
seizures
associated
with
feeding
difficulties
and
failure
to
thrive
,
at
onset
during
the
first
year
of
life
,
as
well
as
in
any
child
with
convulsive
status
epilepticus
and
a
history
of
psychomotor
developmental
delay
of
unknown
origin
.
