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Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.
[pyruvate dehydrogenase deficiency]
Purpose
.
Mental
retardation
,
mild
to
severe
epilepsy
and
cerebral
palsy
often
of
hemiplegic
type
are
common
accompaniments
in
patients
with
agenesis
/
hypoplasia
of
the
corpus
callosum
.
Skeletal
deformities
of
bilateral
radiohumeral
synostosis
,
brachydactyly
,
bilateral
elbow
dislocation
,
talipes
equinovarus
,
and
juxtacalcaneal
accessory
bones
have
been
encountered
in
two
unrelated
children
with
agenesis
of
the
corpus
callosum
.
Methods
.
We
report
on
two
unrelated
children
who
presented
with
the
full
clinical
criteria
of
agenesis
of
the
corpus
callosum
.
Strikingly
,
both
presented
with
variable
upper
and
lower
limb
deformities
.
The
clinical
features
,
radiographic
and
MRI
findings
in
our
current
patients
,
have
been
compared
with
previously
reported
cases
identified
through
a
PubMed
literature
review
.
Results
.
Bilateral
radiohumeral
synostosis
associated
with
pyruvate
dehydrogenase
deficiency
has
been
encountered
in
one
patient
.
The
other
patient
manifested
bilateral
elbow
dislocation
,
coxa
valga
,
talipes
equinovarus
,
and
bilateral
juxtacalcaneal
accessory
bones
.
Conclusion
.
The
constellation
of
malformation
complexes
in
our
current
patients
have
the
hitherto
not
been
reported
and
expanding
the
spectrum
of
skeletal
deformities
in
connection
with
agenesis
of
the
corpus
callosum
.
Diseases
Validation
Diseases presenting
"mental retardation, mild"
symptom
pyruvate dehydrogenase deficiency
This symptom has already been validated
