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Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
[homocystinuria without methylmalonic aciduria]
We
report
on
the
case
of
a
36
-
year
-old
Hispanic
woman
with
a
spinal
cord
infarct
,
who
was
subsequently
diagnosed
with
methylmalonic
aciduria
and
homocystinuria
,
cblC
type
(
cblC
)
.
Mutation
analysis
revealed
c
.
271
dupA
and
c
.
482
G
>
A
mutations
in
the
MMACHC
gene
.
The
patient
had
a
past
medical
history
significant
for
joint
hypermobility
,
arthritis
,
bilateral
cataracts
,
unilateral
hearing
loss
,
anemia
,
frequent
urinary
tract
infections
,
and
mental
illness
.
There
was
no
significant
past
history
of
mental
retardation
,
failure
to
thrive
,
or
seizure
disorder
as
reported
in
classic
cases
of
cblC
.
Prior
to
the
thrombotic
incident
,
the
patient
experienced
increased
paresthesia
in
the
lower
extremities
,
myelopathy
,
and
impaired
gait
.
Given
her
previous
psychiatric
history
,
she
was
misdiagnosed
with
malingering
until
hemiplegia
and
incontinence
became
apparent
.
The
authors
would
like
to
emphasize
the
recognition
of
a
neuropsychiatric
presentation
in
late
onset
cblC
.
Ten
other
reported
late
onset
cases
with
similar
presentations
are
also
reviewed
.
Diseases
Validation
Diseases presenting
"myelopathy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
homocystinuria without methylmalonic aciduria
neuralgic amyotrophy
proteus syndrome
sneddon syndrome
triple a syndrome
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated