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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
"seizure"
symptom
alexander disease
canavan disease
cohen syndrome
cowden syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
neonatal adrenoleukodystrophy
pendred syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
This symptom has already been validated