Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Granulocytopenia in Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
an
autosomal
recessive
disorder
characterized
by
mental
retardation
,
microcephalia
and
typical
craniofacial
features
,
myopia
and
chorioretinal
dystrophy
.
As
some
patients
were
reported
to
have
leucopenia
,
we
collected
the
haematological
data
of
26
Finnish
Cohen
patients
.
They
all
had
experienced
periods
of
isolated
granulocytopenia
from
an
early
age
.
Granulocytopenia
was
mild
to
moderate
,
non-cyclic
and
never
fatal
.
Most
patients
suffered
from
prolonged
or
repeated
gingival
or
skin
infections
.
We
restudied
16
patients
.
Bone
marrow
examination
revealed
in
all
patients
a
normo-
or
hypercellular
marrow
,
with
a
left-shifted
granulopoiesis
in
8
/
16
patients
.
The
response
to
adrenaline
stimulation
was
subnormal
in
12
/
14
and
to
hydrocortisone
in
8
/
16
patients
,
but
administration
of
rhG-CSF
caused
granulocytosis
in
the
three
patients
studied
.
No
bone
marrow
malignancies
were
seen
.
Diseases
Validation
Diseases presenting
"bone marrow examination"
symptom
cohen syndrome
cutaneous mastocytosis
erythropoietic protoporphyria
oculocutaneous albinism
sneddon syndrome
waldenström macroglobulinemia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom