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Successful nutrition management of megacystis-microcolon-intestinal hypoperistalsis syndrome--a case report.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
,
a
visceral
myopathy
causing
intestinal
obstruction
in
the
newborn
,
is
a
generally
fatal
condition
,
with
death
being
secondary
either
to
sepsis
or
to
malnutrition
if
long
-term
intravenous
feeding
is
not
provided
.
A
patient
with
MMIHS
is
described
who
has
been
raised
by
total
parenteral
nutrition
(
TPN
)
for
seven
years
since
her
birth
.
Severe
hepatic
dysfunction
was
encountered
in
early
infancy
,
which
gradually
cleared
after
the
initiation
of
milk
feeding
by
mouth
,
although
the
milk
could
not
be
absorbed
because
of
the
high
-output
jejunostomy
.
The
patient
also
experienced
a
bone
disease
similar
to
scurvy
but
caused
by
copper
deficiency
at
the
age
of
9
months
.
The
central
venous
catheter
now
in
situ
is
the
25
th
one
for
the
patient
.
When
these
catheters
were
evaluated
,
the
Broviac
proved
more
efficacious
than
the
traditional
Silastic
for
use
in
long
-term
TPN
.
The
patient
does
not
yet
have
normal
bowel
function
and
still
requires
TPN
.
Diseases
Validation
Diseases presenting
"myopathy"
symptom
coats disease
cushing syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
familial mediterranean fever
focal myositis
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pyruvate dehydrogenase deficiency
This symptom has already been validated