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Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.
[oculocutaneous albinism]
Chediak-
Higashi
syndrome
(
CHS
)
is
a
rare
autosomal
recessive
disease
,
characterized
by
partial
oculocutaneous
albinism
,
recurrent
pyogenic
infections
(
skin
,
mucosa
and
respiratory
system
)
,
and
neurologic
deficit
.
The
hallmark
of
this
syndrome
is
the
presence
of
abnormal
intracytoplasmic
giant
granules
in
all
granule
containing
cells
including
leukocytes
in
blood
and
bone
marrow
.
A
majority
(
85
%
)
of
patients
with
CHS
develop
an
accelerated
phase
consisting
of
a
lymphoproliferative
syndrome
with
hemophagocytosis
and
infiltration
of
most
tissues
.
This
phase
is
characterized
by
fever
,
jaundice
,
hepatosplenomegaly
,
lymphadenopathy
,
pancytopenia
and
neurological
abnormalities
.
In
this
paper
,
we
report
a
case
of
CHS
presented
as
accelerated
phase
in
a
9
-
month
-old
girl
child
.
