Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"recurrent pyogenic infections and the presence of giant granules in many cells such as leucocytes"
symptom
oculocutaneous albinism
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom