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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
.