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Megacystis microcolon intestinal hypoperistalsis syndrome with severe psychomotor retardation: report of one case.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis
microcolon
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
is
a
rare
and
severe
form
of
neonatal
functional
bowel
obstruction
.
Affected
neonates
present
with
vomiting
,
an
overdistended
abdomen
,
and
a
huge
bladder
after
birth
,
and
they
usually
die
early
in
life
despite
intensive
medical
and
/
or
surgical
management
.
We
report
the
case
of
a
girl
aged
3
years
7
months
who
had
MMIHS
with
severe
psychomotor
retardation
;
autopsy
was
performed
after
her
death
.
Diseases
Validation
Diseases presenting
"severe psychomotor retardation"
symptom
canavan disease
cohen syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
This symptom has already been validated