Rare Diseases Symptoms Automatic Extraction
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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
.
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