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Large granules in the peripheral blood smear and bone marrow aspirate of a 3-year-old male with lymphadenopathy and Fever.
[oculocutaneous albinism]
A
3
-
year
-old
male
with
oculocutaneous
albinism
presented
with
lymphadenopathy
and
fever
.
Serological
testing
revealed
Epstein-
Barr
virus
(
EBV
)
-
specific
immunoglobulin
M
(
IgM
)
and
a
diagnosis
of
infectious
mononucleosis
was
made
.
A
complete
blood
count
and
peripheral
blood
smear
demonstrated
mild
anemia
,
thrombocytopenia
,
and
neutropenia
with
leukocytes
that
contained
large
azurophilic
and
eosinophilic
granules
.
Bone
marrow
examination
demonstrated
increased
hemophagocytic
histiocytes
along
with
granulocytes
that
contained
large
eosinophilic
granules
.
In
addition
to
hemophagocytic
lymphohistiocytosis
,
presumably
due
to
acute
EBV
infection
,
the
patient
was
diagnosed
with
Chediak-
Higashi
syndrome
based
on
the
pathognomonic
granules
within
peripheral
leukocytes
and
precursors
.
The
differential
diagnosis
of
a
young
patient
with
oculocutaneous
albinism
presenting
with
an
acute
viral
infection
includes
a
relatively
narrow
range
of
genetic
syndromes
based
solely
on
the
history
of
albinism
.
This
case
demonstrates
the
application
of
clinical
laboratory
data
to
presumptively
diagnose
Chediak-
Higashi
syndrome
in
the
midst
of
a
presentation
of
hemophagocytic
lymphohistiocytosis
secondary
to
acute
EBV
infection
.
Diseases
Validation
Diseases presenting
"acute ebv infection"
symptom
oculocutaneous albinism
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