Rare Diseases Symptoms Automatic Extraction
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A case of malignant pheochromocytoma with Holt-Oram syndrome.
[holt-oram syndrome]
A
23
-
year
-old
female
patient
with
malignant
pheochromocytoma
was
admitted
to
the
Tokyo
Women
's
Medical
University
.
The
patient
had
been
clinically
diagnosed
with
Holt-
Oram
syndrome
at
birth
.
Since
she
had
complex
congenital
heart
disease
,
chronic
heart
failure
,
and
severe
hypoxia
,
the
risk
surrounding
surgery
to
remove
the
primary
tumor
was
predicted
to
be
very
high
,
and
subsequently
,
chemotherapy
was
performed
.
The
patient
was
not
able
to
continue
chemotherapy
due
to
adverse
effects
.
However
,
for
one
year
,
both
her
hypertension
and
catecholamine-dependent
symptoms
were
well
controlled
by
an
alpha-adrenergic
and
beta
-adrenergic
receptor
blockade
,
although
the
patient
did
experience
high
plasma
norepinephrine
levels
.
To
our
knowledge
,
this
is
the
first
report
of
a
patient
with
the
combination
of
malignant
pheochromocytoma
and
Holt-
Oram
syndrome
.
A
correlation
between
chronic
hypoxia
and
pheochromocytoma
has
been
reported
.
This
instructive
case
reminds
us
to
consider
the
possibility
of
pheochromocytoma
with
congenital
heart
disease
when
these
types
of
unexpected
or
unusual
symptoms
are
encountered
.
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