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A cholestatic diagnostic dilemma.
[benign recurrent intrahepatic cholestasis]
A
28
-
year
-old
man
with
hereditary
spherocytosis
presented
with
abdominal
pain
and
jaundice
.
He
had
severe
,
mainly
conjugated
(
642
μmol
/
l
)
,
hyperbilirubinaemia
(
1033
μmol
/
l
)
,
with
elevated
liver
enzymes
:
alkaline
phosphatase
(
ALP
)
(
163
IU
/
l
)
,
γ-glutamyltransferase
(
gGT
)
(
277
IU
/
l
)
and
aspartate
transaminase
(
AST
)
(
358
IU
/
l
)
.
Abdominal
ultrasound
and
magnetic
resonance
cholangiopancreatography
(
MRCP
)
showed
gallstones
in
the
gallbladder
but
an
absence
of
biliary
duct
dilation
.
Liver
biopsy
was
consistent
with
cholestasis
but
showed
no
large
duct
obstruction
.
The
cause
of
the
cholestasis
was
unclear
,
was
it
a
primary
intrahepatic
pathology
or
secondary
to
a
posthepatic
cause
?
He
presented
with
similar
symptoms
days
later
with
gallstones
in
the
bile
duct
(
choledocholithiasis
)
and
underwent
endoscopic
retrograde
cholangiopancreatography
(
ERCP
)
and
cholecystectomy
.
This
report
guides
one
through
the
assessment
of
jaundice
and
serves
as
an
example
whereby
the
diagnosis
of
a
common
cause
of
illness
is
blurred
by
an
atypical
clinical
presentation
and
relevant
comorbidities
.
A
diagnosis
of
benign
recurrent
intrahepatic
cholestasis
(
BRIC
)
is
also
considered
.
Diseases
Validation
Diseases presenting
"spherocytosis"
symptom
benign recurrent intrahepatic cholestasis
kallmann syndrome
This symptom has already been validated
