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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
"increased cortical thickness within the olfactory"
symptom
kallmann syndrome
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