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Recognizable phenotypes associated with intracranial calcification.
[alexander disease]
In
this
observational
study
,
we
adopted
a
systematic
approach
to
the
radiological
phenotyping
of
disorders
associated
with
intracranial
calcification
,
with
the
aim
of
determining
if
characteristic
patterns
could
be
defined
as
an
aid
to
the
future
diagnosis
of
known
conditions
and
the
identification
of
new
disorders
.
A
cranial
imaging-based
scoring
system
was
devised
using
both
computed
tomography
and
magnetic
resonance
imaging
data
.
Patients
were
grouped
into
diagnostic
categories
where
a
definitive
molecular
diagnosis
was
known
,
or
where
the
clinical
and
radiological
features
suggested
a
specific
diagnosis
.
For
patients
in
whom
the
diagnosis
was
unknown
,
subgroups
were
defined
according
to
shared
radiological
features
.
Data
on
244
scans
from
119
patients
were
analysed
.
A
specific
diagnosis
was
available
for
59
patients
(
31
males
,
28
females
;
median
age
50
mo
,
range
1
wk
to
54
y
)
.
These
were
as
follows
(
number
of
patients
in
brackets
)
:
Aicardi-
Goutières
syndrome
(
33
)
,
cerebroretinal
microangiopathy
with
calcification
and
cysts
(
10
)
,
band-like
calcification
with
simplified
gyration
and
polymicrogyria
(
6
)
,
COL
4
A
1
-
related
disease
(
3
)
,
Degos
disease
(
2
)
,
Krabbe
disease
(
2
)
,
Alexander
disease
(
1
)
,
mitochondrial
disease
(
1
)
,
and
tetrasomy
15
(
1
)
.
In
60
patients
the
aetiology
was
unknown
.
Within
this
group
,
subsets
demonstrating
shared
characteristics
suggestive
of
a
specific
calcification
phenotype
could
be
identified
.
This
study
confirms
the
value
of
a
systematic
approach
to
radiological
phenotyping
of
disorders
associated
with
intracranial
calcification
.
Diseases
Validation
Diseases presenting
"intracranial calcification"
symptom
alexander disease
coats disease
krabbe disease
malignant atrophic papulosis
This symptom has already been validated
