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
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated