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[A hemophagocytic syndrome revealing a Griscelli syndrome type 2].
[oculocutaneous albinism]
Griscelli
syndrome
type
2
is
a
rare
autosomal
recessive
disorder
,
due
to
a
mutation
in
RAB
27
A
gene
.
It
associates
partial
albinism
,
silver
hair
and
immune
deficiency
.
We
report
the
case
of
a
6
year
-old
boy
who
was
admitted
to
the
Emergency
department
with
severe
sepsis
complicated
by
hemophagocytic
syndrome
.
Many
clinical
and
biological
criteria
leads
to
the
diagnosis
of
type
2
Griscelli
syndrome
:
consanguineous
family
,
recurrent
infection
,
absence
of
psychomotor
retardation
,
oculocutaneous
albinism
,
silver
hair
,
occurrence
of
hemophagocytic
syndrome
and
especially
the
pathognomonic
appearance
on
microscopic
examination
of
the
hair
.
The
absence
of
giant
organelles
inclusion
in
all
granulated
cells
eliminated
Chediak-
Higashi
syndrome
.
Diseases
Validation
Diseases presenting
"absence of giant organelles inclusion in all granulated cells"
symptom
oculocutaneous albinism
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