Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Brain changes in Kallmann syndrome.
[kallmann syndrome]
Kallmann
syndrome
is
a
rare
inherited
disorder
due
to
defective
intrauterine
migration
of
olfactory
axons
and
gonadotropin-releasing
hormone
neurons
,
leading
to
rhinencephalon
hypoplasia
and
hypogonadotropic
hypogonadism
.
Concomitant
brain
developmental
abnormalities
have
been
described
.
Our
aim
was
to
investigate
Kallmann
syndrome
-related
brain
changes
with
conventional
and
novel
quantitative
MR
imaging
analyses
.
Forty
-
five
male
patients
with
Kallmann
syndrome
(
mean
age
,
30
.
7
years
;
range
,
9
-
55
years
)
and
23
age-matched
male
controls
underwent
brain
MR
imaging
.
The
MR
imaging
study
protocol
included
3
D-
T
1
,
FLAIR
,
and
diffusion
tensor
imaging
(
32
noncollinear
gradient-encoding
directions
;
b
-value
=
800
s
/
mm
2
)
.
Voxel-based
morphometry
,
sulcation
,
curvature
,
and
cortical
thickness
analyses
and
tract-based
spatial
statistics
were
performed
by
using
Statistical
Parametric
Mapping
8
,
FreeSurfer
,
and
the
fMRI
of
the
Brain
Software
Library
.
Corpus
callosum
partial
agenesis
,
multiple
sclerosis
-like
white
matter
abnormalities
,
and
acoustic
schwannoma
were
found
in
1
patient
each
.
The
total
amount
of
gray
and
white
matter
volume
and
tract-based
spatial
statistics
measures
(
fractional
anisotropy
and
mean
,
radial
,
and
axial
diffusivity
)
did
not
differ
between
patients
with
Kallmann
syndrome
and
controls
.
By
specific
analyses
,
patients
with
Kallmann
syndrome
presented
with
symmetric
clusters
of
gray
matter
volume
increase
and
decrease
and
white
matter
volume
decrease
close
to
the
olfactory
sulci
;
reduced
sulcal
depth
of
the
olfactory
sulci
and
deeper
medial
orbital-
frontal
sulci
;
lesser
curvature
of
the
olfactory
sulcus
and
sharper
curvature
close
to
the
medial
orbital-
frontal
sulcus
;
and
increased
cortical
thickness
within
the
olfactory
sulcus
.
This
large
MR
imaging
study
on
male
patients
with
Kallmann
syndrome
featured
significant
morphologic
and
structural
brain
changes
,
likely
driven
by
olfactory
bulb
hypo-
/
aplasia
,
selectively
involving
the
basal
forebrain
cortex
.
Diseases
Validation
Diseases presenting
"corpus callosum"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
gm1 gangliosidosis
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
krabbe disease
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom