Rare Diseases Symptoms Automatic Extraction
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Serious rectal bleeding complicating suction rectal biopsy in a child.
[hirschsprung disease]
Rectal
suction
biopsy
is
the
first
step
in
evaluating
suspected
Hirschsprung
's
disease
before
a
full
thickness
rectal
biopsy
is
planned
.
It
has
an
excellent
safety
profile
and
generally
good
yield
.
However
,
there
have
been
rare
reports
of
serious
complications
with
this
procedure
and
at
least
one
death
,
mostly
in
the
neonatal
period
and
under
one
year
of
age
,
at
the
time
of
diagnosis
.
We
report
a
case
of
a
2
year
old
child
with
suspected
Hirschsprung
's
disease
who
underwent
rectal
suction
biopsy
and
developed
delayed
bleeding
requiring
a
blood
transfusion
.
To
the
best
of
our
knowledge
,
this
is
the
first
report
of
an
older
child
,
greater
than
one
year
of
age
,
developing
this
serious
complication
at
the
time
of
rectal
suction
biopsy
.
Discussion
of
the
technique
as
well
as
the
patient
's
presentation
and
his
outcome
are
provided
.
Pediatric
gastroenterologists
and
pediatric
surgeons
performing
rectal
suction
biopsy
may
need
to
be
aware
of
this
risk
even
with
older
children
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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