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Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients.
[wolf-hirschhorn syndrome]
To
define
the
spectrum
of
epilepsy
in
Wolf-
Hirschhorn
syndrome
(
WHS
)
better
,
we
studied
87
patients
(
54
females
,
33
males
;
median
age
5
.
6
years
;
age
range
1
-
25
.
6
years
)
with
confirmed
4
p
16
.
3
deletion
.
On
the
basis
of
clinical
charts
,
we
retrospectively
analyzed
the
evolution
of
the
electroencephalogram
(
EEG
)
findings
and
seizures
.
Epilepsy
occurred
in
81
patients
(
93
%
)
within
the
first
3
years
of
life
.
Sixty
out
of
81
(
74
%
)
had
generalized
tonic-clonic
seizures
,
which
was
the
only
seizure
pattern
in
32
.
Tonic
spasms
occurred
in
15
out
of
81
(
18
%
)
,
complex
partial
seizures
in
10
out
of
81
(
12
%
)
,
and
clonic
seizures
in
6
out
of
81
(
7
%
)
.
Seizures
were
frequently
triggered
by
fever
(
59
out
of
81
;
73
%
)
,
and
occurred
in
clusters
in
36
out
of
72
(
50
%
)
.
In
the
same
36
(
50
%
)
,
unilateral
or
generalized
clonic
or
tonic-clonic
status
epilepticus
occurred
during
the
first
3
years
of
life
.
Twenty
-
seven
out
of
81
patients
(
33
%
)
developed
atypical
absences
between
1
and
6
years
,
accompanied
by
a
myoclonic
component
involving
the
eyelids
and
the
hands
.
Distinctive
EEG
abnormalities
were
observed
in
73
out
of
81
(
90
%
)
.
Epilepsy
was
well
controlled
in
65
out
of
81
(
81
%
)
,
mainly
with
valproate
and
phenobarbital
,
and
improved
with
age
in
all
.
Thirty
-
two
out
of
58
(
55
%
)
are
currently
seizure
-free
.
Seizures
stopped
at
a
median
age
of
4
years
6
months
.
Epilepsy
represents
a
major
clinical
challenge
in
WHS
;
however
,
it
has
a
good
prognosis
.
Early
diagnosis
and
treatment
of
atypical
absences
,
subtle
and
often
misdiagnosed
,
is
mandatory
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated
