Rare Diseases Symptoms Automatic Extraction
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Multiple endocrine neoplasia type IIa associated with Cushing's syndrome.
[cushing syndrome]
Multiple
Endocrine
Neoplasia
type
IIa
(
MEN
IIa
)
is
an
autosomal
dominant
syndrome
characterized
by
pheochromocytoma
,
medullary
thyroid
carcinoma
and
hyperparathyroidism
.
Pheochromocytoma
occurs
in
approximately
50
%
of
patients
with
MEN
IIa
.
This
tumor
has
the
capacity
to
produce
ACTH
ectopically
and
manifests
as
the
Cushing
syndrome
,
although
it
is
very
rare
.
We
report
a
26
-
year
-old
woman
patient
with
severe
muscle
weakness
,
skin
lesions
in
extremities
,
hypertension
,
and
new
onset
diabetes
whose
laboratory
findings
included
hypokalemia
,
metabolic
alkalosis
,
high
serum
level
of
cortisol
,
metanephrine
,
normetanephrine
,
calcitonin
and
bilateral
adrenal
mass
in
computed
tomography
as
the
first
clinical
manifestations
of
an
ACTH-secreting
pheochromocytoma
.
In
the
patients
with
hypertension
,
new
onset
diabetes
and
hypokalemia
,
the
Cushing
syndrome
and
pheochromocytoma
should
always
be
ruled
out
.
Diseases
Validation
Diseases presenting
"hypertension"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
cadasil
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kallmann syndrome
kindler syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
pendred syndrome
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
sneddon syndrome
typhoid
von hippel-lindau disease
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated