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Alexander's disease: reassessment of a neonatal form.
[alexander disease]
Alexander
disease
is
a
disorder
caused
by
a
mutation
and
accumulation
of
the
glial
fibrillary
acidic
protein
.
Currently
,
three
subtypes
are
acknowledged
:
an
infantile
,
a
juvenile
,
and
an
adult
form
.
However
,
onset
early
in
infancy
or
in
the
prenatal
period
has
been
shown
to
present
with
a
uniform
pattern
of
symptoms-suggesting
the
presence
of
a
distinct
neonatal
form
of
the
disease
.
Though
the
neonatal
form
of
Alexander
disease
is
not
well
acknowledged
,
a
uniform
and
distinct
presentation
of
the
disease
in
neonates
has
been
observed
,
suggesting
the
need
for
a
different
course
of
identification
and
treatment
.
Clinical
presentation
of
the
neonatal
form
is
distinguished
by
leukodystrophy
and
generalized
,
frequent
,
and
intractable
seizures
.
While
the
infantile
form
presents
with
ataxia
,
hyperreflexia
,
and
other
upper
motor
neuron
symptoms
,
none
of
these
has
been
observed
in
the
neonatal
form
.
In
the
diagnosis
of
neonatal
Alexander
disease
,
it
is
essential
to
rule
out
other
causes
of
leukodystrophy
and
the
presence
of
neoplasms
.
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
