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[Follow-up of benign recurrent intrahepatic cholestasis (Summerskill-Walshe-Tygstrup syndrome) over 46 years].
[benign recurrent intrahepatic cholestasis]
Benign
recurrent
intrahepatic
cholestasis
(
BRIC
or
Summerskill-
Walshe-
Tygstrup-syndrome
)
is
a
rare
autosomal
recessive
form
of
liver
disease
,
which
usually
becomes
manifest
in
childhood
.
Characteristic
are
recurrent
episodes
of
jaundice
and
itching
of
different
duration
.
Number
and
duration
of
episodic
attack
and
asymptomatic
period
develop
individually
.
For
diagnosis
of
BRIC
following
criteria
are
proposed
:
At
least
three
episodes
of
severe
jaundice
and
pruritus
with
biochemical
evidence
of
cholestasis
,
normal
intra-and
extrahepatic
bile
ducts
on
cholangiography
,
absence
of
a
factor
known
to
produce
intrahepatic
cholestasis
and
symptom-free
intervals
of
several
months
or
years
.
Often
the
diagnosis
of
BRIC
is
made
very
late
and
patients
have
to
suffer
invasive
investigations
(
explorative
laparotomy
)
.
Because
of
the
unknown
pathophysiological
mechanism
there
is
no
specific
treatment
.
We
report
on
a
53
-
year
-old
patient
with
jaundice
,
severe
pruritus
,
vomiting
,
loss
of
hair
and
weight
,
extreme
sleeplessness
and
intractable
cough
.
At
the
onset
of
the
attack
an
increase
of
serum
bilirubin
concentration
and
serum
alkaline
phosphatase
was
observed
,
whereas
aspartate
and
alanine
aminotransferase
and
gamma-glutamyltransferase
were
normal
.
Histological
findings
of
liver
biopsy
revealed
accumulation
of
bile
plugs
in
bile
canaliculi
.
The
long
-term
follow-up
of
our
patient
confirms
that
the
prognosis
is
good
.
Diseases
Validation
Diseases presenting
"intrahepatic cholestasis"
symptom
benign recurrent intrahepatic cholestasis
zellweger syndrome
This symptom has already been validated
