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Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
4
p
-
)
is
a
rare
disorder
with
characteristic
physical
findings
.
Neuroimaging
findings
are
relatively
scarce
.
We
performed
a
literature
search
and
found
22
reports
of
neuroimaging
findings
.
We
present
findings
in
our
two
cases
,
each
with
the
previously
unreported
finding
of
a
tethered
cord
.
The
most
common
abnormalities
were
of
the
corpus
callosum
,
occurring
in
71
%
of
all
cases
.
There
appears
to
be
a
high
association
in
the
syndrome
between
corpus
callosal
abnormalities
and
periventricular
cysts
formation
in
the
first
year
of
life
.
These
cysts
eventually
fuse
with
the
frontal
horns
during
late
infancy
with
enlargement
of
the
frontal
horns
.
Absence
of
other
causes
for
periventricular
cyst
formation
,
such
as
perinatal
distress
,
prematurity
,
or
cytomegalovirus
infection
,
appears
to
strengthen
the
association
.
With
further
studies
,
neuroimaging
findings
may
eventually
assist
in
the
diagnosis
of
patients
with
Wolf-
Hirschhorn
syndrome
.
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
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