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Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
[homocystinuria without methylmalonic aciduria]
Abnormal
neurodevelopment
has
been
widely
reported
in
combined
methylmalonic
aciduria
(
MMA
)
and
homocystinuria
,
cblC
type
(
cblC
disease
)
,
but
neurodevelopmental
phenotypes
in
cblC
have
not
previously
been
systematically
studied
.
We
sought
to
further
characterize
developmental
neurology
in
children
with
molecularly-confirmed
cblC
.
Thirteen
children
at
our
center
with
cblC
,
born
since
implementation
of
expanded
newborn
screening
in
New
York
State
,
undertook
standard-of-care
evaluations
with
a
pediatric
neurologist
and
pediatric
ophthalmologist
.
At
most
recent
follow-up
(
mean
age
50
months
,
range
9
-
84
months
)
,
of
twelve
children
with
early
-onset
cblC
,
three
(
25
%
)
had
a
history
of
clinical
seizures
and
two
(
17
%
)
meet
criteria
for
microcephaly
.
A
majority
of
children
had
hypotonia
and
nystagmus
.
Twelve
out
of
thirteen
(
92
%
)
underwent
neurodevelopmental
evaluation
(
mean
age
41
months
;
range
9
-
76
months
)
,
each
child
tested
with
standardized
parental
interviews
and
,
where
possible
,
age-
and
disability-appropriate
neuropsychological
batteries
.
All
patients
showed
evidence
of
developmental
delay
with
the
exception
of
one
patient
with
a
genotype
predictive
of
attenuated
disease
and
near-normal
biochemical
parameters
.
Neurodevelopmental
deficits
were
noted
most
prominently
in
motor
skills
,
with
relative
preservation
of
socialization
and
communication
skills
.
Nine
children
with
early
-onset
cblC
underwent
magnetic
resonance
imaging
and
spectroscopy
(
MRI
/
MRS
)
at
mean
age
of
47
months
(
range
6
-
81
months
)
;
common
abnormalities
included
callosal
thinning
,
craniocaudally
short
pons
,
and
increased
T
2
FLAIR
signal
in
periventricular
and
periatrial
white
matter
.
Our
study
further
characterizes
variable
neurodevelopmental
phenotypes
in
treated
cblC
,
and
provides
insights
into
the
etiopathogenesis
of
disordered
neurodevelopment
frequently
encountered
in
cblC
.
Plasma
homocysteine
and
MMA
,
routinely
measured
at
clinical
follow-up
,
may
be
poor
predictors
for
neurodevelopmental
outcomes
.
Additional
data
from
large
,
prospective
,
multi-center
natural
history
studies
are
required
to
more
accurately
define
the
role
of
these
metabolites
and
others
,
as
well
as
that
of
other
genetic
and
environmental
factors
in
the
etiopathogenesis
of
the
neurologic
components
of
this
disorder
.
Diseases
Validation
Diseases presenting
"with relative preservation of socialization and communication skills"
symptom
homocystinuria without methylmalonic aciduria
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