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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
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated