Rare Diseases Symptoms Automatic Extraction
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Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl.
[alexander disease]
Alexander
disease
is
a
rare
form
of
leukodystrophy
with
a
highly
variable
clinical
course
.
Occasionally
night
-time
nausea
and
vomiting
are
the
first
symptoms
of
juvenile
Alexander
disease
.
A
7
-
year
-old
girl
had
recurrent
night
-time
vomiting
and
her
growth
and
weight
gain
had
deteriorated
after
her
sixth
birthday
.
Cranial
MRI
demonstrated
two
small
,
symmetrical
focal
areas
of
abnormally
high
signal
intensity
in
the
dorsal
medulla
oblongata
on
T
2
-
W
and
FLAIR
images
.
These
were
suggestive
of
juvenile
Alexander
disease
,
and
subsequent
sequencing
of
the
glial
fibrillary
acidic
protein
(
GFAP
)
gene
revealed
a
heterogeneous
missense
mutation
in
the
GFAP
gene
in
exon
6
.
Alexander
disease
should
be
considered
in
young
patients
with
atypical
anorexia
nervosa-
type
symptoms
.
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