Rare Diseases Symptoms Automatic Extraction
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Motor neuronopathy in Chediak-Higashi syndrome.
[oculocutaneous albinism]
Chediak-
Higashi
syndrome
is
a
rare
autosomal
recessive
disease
characterized
by
partial
oculocutaneous
albinism
,
recurrent
pyogenic
infections
and
the
presence
of
giant
granules
in
many
cells
such
as
leucocytes
(
hallmark
of
the
disease
)
.
Neurological
symptoms
are
rare
.
We
describe
two
sisters
who
presented
the
same
phenotype
of
slowly
progressive
motor
neuronopathy
(
with
Babinski
sign
in
one
patient
)
;
biopsy
of
the
sural
nerve
showed
an
abnormal
endoneurial
accumulation
of
lipofuscin
granules
.
We
discuss
these
two
observations
and
compare
them
with
the
few
case
reports
of
neuropathy
in
Chediak-
Higashi
syndrome
.
Diseases
Validation
Diseases presenting
"albinism"
symptom
aniridia
cystinuria
harlequin ichthyosis
oculocutaneous albinism
phenylketonuria
This symptom has already been validated