Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Tuberous sclerosis presenting with spontaneous pneumothorax secondary to lymphangioleiomyomatosis; previously mistaken for asthma.
[lymphangioleiomyomatosis]
A
middle
-aged
female
patient
,
previously
diagnosed
with
asthma
,
presented
with
a
large
spontaneous
left
pneumothorax
.
She
had
a
history
of
nephrectomy
for
a
ruptured
renal
angiomyolipoma
(
AML
)
with
a
postoperative
spontaneous
pneumothorax
when
she
was
an
adolescent
.
High
-resolution
CT
chest
revealed
multiple
scattered
thin
-walled
lung
parenchyma
cysts
consistent
with
lymphangioleiomyomatosis
(
LAM
)
.
Hepatic
AMLs
and
adenoma
sebaceum
skin
lesions
were
also
noted
,
consistent
with
an
overall
diagnosis
of
tuberous
sclerosis
.
Her
acute
management
included
lung
re
-expansion
via
chest
tube
insertion
,
antibiotics
for
concurrent
chest
infection
,
nebulisation
and
chest
physiotherapy
.
Since
discharge
,
the
patient
had
only
occasional
shortness
of
breath
,
relieved
by
bronchodilators
.
She
is
considering
expanded
immunisation
as
well
as
enrolment
in
a
clinical
trial
.
Her
hepatic
AMLs
will
be
monitored
via
ultrasound
for
growth
.
LAM
treatment
is
generally
aimed
at
its
complications
with
lung
transplantation
reserved
for
severe
disease
;
however
,
hormonal
therapy
and
the
mTOR
inhibitor
aim
at
targeting
systemic
disease
.
Diseases
Validation
Diseases presenting
"only occasional shortness"
symptom
lymphangioleiomyomatosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom