Rare Diseases Symptoms Automatic Extraction
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Radiological clue to diagnosis of Canavan disease.
[canavan disease]
Canavan
disease
is
an
autosomal
recessive
leukodystrophy
characterized
by
early
onset
developmental
delay
,
initial
hypotonia
progressing
to
hypertonia
,
macrocephaly
and
blindness
.
The
authors
present
an
infant
with
these
clinical
features
.
MRI
brain
shows
white
matter
changes
with
characteristic
involvement
of
subcortical
U
fibres
and
MR
spectroscopy
shows
the
characteristic
peak
of
N-
acetyl
aspartate
.
The
importance
of
specific
clinical
features
and
imaging
in
the
diagnosis
of
different
leukodystrophies
in
resource
and
access
limited
settings
is
suggested
.
Diseases
Validation
Diseases presenting
"white matter changes"
symptom
alexander disease
cadasil
canavan disease
classical phenylketonuria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
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