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Encephalopathy in megacystis-microcolon-intestinal hypoperistalsis syndrome patients on long-term total parenteral nutrition possibly due to selenium deficiency.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
This
report
concerns
two
patients
(
female
,
9
and
6
years
)
who
were
diagnosed
with
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
.
Although
they
exceeded
the
usual
life
expectancy
of
patients
diagnosed
with
MMIHS
because
of
total
parenteral
nutrition
(
TPN
)
,
they
demonstrated
progressive
neurological
deficits
and
showed
histopathological
features
in
the
brain
.
Both
patients
were
diagnosed
with
MMIHS
in
the
neonatal
period
and
were
fed
by
TPN
.
The
first
patient
developed
visual
and
gait
disturbances
at
the
age
of
7
years
.
Two
months
later
,
she
developed
dysarthria
and
muscular
weakness
,
and
could
not
maintain
her
posture
.
The
level
of
serum
selenium
was
extremely
low
.
The
second
patient
developed
flexion
and
spasticity
of
the
extremities
followed
by
decorticate
posture
at
the
age
of
3
years
.
Both
patients
died
of
sepsis
.
The
brain
weights
of
the
two
cases
were
880
g
and
715
g
.
In
both
cases
,
severe
neuronal
loss
and
gliosis
were
present
in
the
medial
convolutions
of
the
occipital
lobe
,
including
the
visual
cortex
.
The
postcentral
gyrus
and
temporal
transverse
gyrus
were
also
involved
.
In
addition
,
extensive
loss
of
Purkinje
cells
and
granular
neurons
,
and
gliosis
were
observed
in
the
cerebellum
.
We
measured
the
selenium
content
of
the
brains
and
livers
using
the
graphite
furnace
atomic
absorption
spectrometry
method
.
Selenium
was
not
detected
in
either
brain
,
although
the
livers
of
both
cases
contained
a
low
level
of
selenium
.
On
immunohistochemical
examination
of
the
anti-oxidative
enzymes
,
histiocyte-macrophage
lineage
cells
in
MMIHS
cases
,
including
microglia
and
Kupffer
cells
,
showed
only
a
weak
reaction
for
glutathione
peroxidase
,
of
which
selenium
is
an
essential
component
.
However
,
the
cells
in
the
control
cases
were
strongly
positive
.
In
cases
of
MMIHS
and
methylmercury
intoxication
,
the
brain
features
similar
lesions
,
in
both
their
topographical
and
histopathological
aspects
.
We
considered
that
the
brain
lesions
of
the
MMIHS
patients
mainly
resulted
from
oxidative
damage
of
the
brain
related
to
the
low
levels
of
glutathione
peroxidase
and
other
selenoproteins
due
to
selenium
deficiency
.
Diseases
Validation
Diseases presenting
"progressive neurological deficits"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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