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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
.
Diseases
Validation
Diseases presenting
"first year"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
benign recurrent intrahepatic cholestasis
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
phenylketonuria
pleomorphic liposarcoma
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
wolf-hirschhorn syndrome
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