Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Neurologic involvement in a child with systemic capillary leak syndrome.
[systemic capillary leak syndrome]
Idiopathic
systemic
capillary
leak
syndrome
(
SCLS
)
is
a
rare
and
life-threatening
disorder
of
unknown
pathology
.
It
is
characterized
by
recurrent
episodes
of
shock
resulting
from
leakage
of
plasma
,
which
is
reflected
by
accompanying
hemoconcentration
,
hypoalbuminemia
,
and
edema
.
Since
its
first
description
(
Clarkson
B
,
Thompson
D
,
Horwith
M
,
Luckey
A
.
Am
J
Med
.
1960
;
29
:
193
-
216
)
,
there
have
been
only
3
descriptions
of
children
with
the
disorder
.
Familial
cases
have
not
been
reported
.
Brain
involvement
has
only
been
described
for
adults
and
with
minimal
radiologic
findings
.
We
report
here
an
unusual
case
of
an
8
-
year
-old
boy
with
multiple
episodes
of
SCLS
since
the
age
of
5
months
and
an
exceptional
presentation
characterized
by
substantial
neurologic
involvement
with
cerebellar
edema
and
autonomic
dysfunction
.
The
patient
's
family
history
was
remarkable
for
8
more
relatives
with
the
disorder
,
including
his
sister
who
died
during
a
similar
episode
in
infancy
and
a
first
-degree
cousin
of
his
father
who
was
diagnosed
as
suffering
from
recurrent
episodes
of
SCLS
.
Our
patient
is
,
to
our
knowledge
,
the
first
patient
with
SCLS
with
a
family
history
of
the
disorder
.
Additional
genetic
studies
in
the
extended
family
might
shed
light
on
the
pathogenesis
of
this
rare
disorder
.
Diseases
Validation
Diseases presenting
"edema"
symptom
acute rheumatic fever
adrenomyeloneuropathy
aniridia
cadasil
canavan disease
classical phenylketonuria
coats disease
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
erythropoietic protoporphyria
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
inclusion body myositis
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
pleomorphic liposarcoma
systemic capillary leak syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
This symptom has already been validated