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Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.
[phenylketonuria]
Numerous
congenital
-genetic
inborn
errors
of
metabolism
(
CIEMs
)
have
been
identified
and
characterized
in
detail
within
recent
decades
,
with
promising
therapeutic
options
.
Neuroimaging
is
becoming
increasingly
utilized
in
earlier
stages
of
CIEMs
,
and
even
in
asymptomatic
relatives
of
patients
with
a
CIEM
,
so
as
to
monitor
disease
progress
and
treatment
response
.
This
review
attempts
to
summarize
in
a
concise
fashion
the
neuroimaging
findings
of
various
CIEMs
that
may
present
in
adulthood
,
as
well
as
those
that
may
persist
into
adulthood
,
whether
because
of
beneficial
therapy
or
a
delay
in
diagnosis
.
Notably
,
some
of
these
disorders
have
neuroimaging
findings
that
differ
from
their
classic
infantile
or
early
childhood
forms
,
whereas
others
are
identical
to
their
early
pediatric
forms
.
The
focus
of
this
review
is
their
appearance
on
routine
magnetic
resonance
imaging
sequences
,
with
some
basic
attention
to
the
findings
of
such
CIEMs
on
specialized
neuroimaging
,
based
on
recent
or
preliminary
research
.
The
general
classes
of
disorders
covered
in
this
complex
review
are
:
peroxisomal
disorders
(
adrenoleukodystrophy
)
,
lysosomal
storage
disorders
(
including
metachromatic
leukodystrophy
,
Krabbe
or
globoid
cell
leukodystrophy
,
Fabry
,
Niemann-
Pick
,
GM
1
,
GM
2
,
Gaucher
,
mucopolysaccharidoses
,
and
Salla
diseases
)
,
mitochondrial
disorders
(
including
mitochondrial
encephalomyopathy
with
lactic
acidosis
and
strokelike
episodes
,
myoclonic
epilepsy
with
ragged
red
fibers
,
Leigh
disease
,
and
Kearns-
Sayre
syndrome
)
,
urea
cycle
disorders
,
several
organic
acidemias
(
including
phenylketonuria
,
maple
syrup
urine
disease
,
3
-
hydroxy-
3
-
methylglutaryl
colyase
deficiency
,
glutaric
acidurias
,
methylmalonic
academia
,
proprionic
academia
,
3
-
methylglucatonic
aciduria
,
and
2
-
hydroxyglutaric
acidurias
)
,
cytoskeletal
or
transporter
molecule
defects
(
including
Alexander
or
fibrinoid
leukodystrophy
,
proteolipid
protein-
1
defect
or
Pelizaeus
Merzbacher
,
Wilson
,
and
Huntington
diseases
)
,
and
several
neurodegenerative
disorders
of
brain
iron
accumulation
.
Additionally
,
an
arbitrary
"
miscellaneous
"
category
of
5
recognizable
disorders
that
may
present
in
or
persist
into
adulthood
is
summarized
,
which
include
megalencephalic
leukoencephalopathy
with
subcortical
cysts
(
megancephalic
leukoencephalopathy
with
subcortical
cysts
or
van
der
Knaap
disease
)
,
polymerase-
III
gene
defect
(
"
4
H
syndrome
"
)
,
childhood
ataxia
with
central
nervous
system
hypomyelination
(
"
vanishing
white
matter
disease
"
)
,
striopallidodentate
calcinosis
(
"
Fahr
disease
"
)
,
and
Cockayne
syndrome
.
Diseases
Validation
Diseases presenting
"leigh disease"
symptom
phenylketonuria
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