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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
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated