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Hemophagocyctic lymphohistiocytosis developed in a Japanese boy with Chédiak-Higashi syndrome.
[oculocutaneous albinism]
Chédiak-
Higashi
syndrome
(
CHS
)
is
one
of
the
primary
immunodeficiency
syndromes
accompanied
by
oculocutaneous
albinism
.
It
is
characterized
by
existence
of
giant
granule
of
neutrophils
,
and
development
of
symptoms
of
hemophagocytic
lymphohistiocytosis
.
CHS
is
a
rare
disorder
and
recognition
of
the
disease
is
indispensable
for
its
diagnosis
.
In
our
case
,
a
four
-
month
-old
boy
,
virus-associated
hemophagocytic
syndrome
(
VAHS
)
was
suspected
from
generation
of
fever
,
hepatosplenomegaly
,
and
existence
of
atypical
lymphocytes
on
admission
.
However
,
elevation
of
serum
AST
,
LDH
and
ferritin
were
quite
slight
as
VAHS
,
and
rapid
exacerbation
of
the
findings
was
not
seen
.
Associated
virus
was
undetected
.
He
was
finally
diagnosed
as
CHS
developing
hemophagocyctic
lymphohistiocytosis
based
on
the
existence
of
a
giant
granule
of
neutrophils
in
the
peripheral
blood
smear
and
oculocutaneous
albisum
and
laboratory
findings
.
Clinical
outcome
was
successful
after
receiving
HLA-matched
unrelated
bone
marrow
transplantation
.
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