Rare Diseases Symptoms Automatic Extraction
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Epilepsy in a child with Wolf-Hirschhorn syndrome.
[wolf-hirschhorn syndrome]
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
rare
chromosomal
disorder
characterized
by
facial
dismorphy
,
multiple
congenital
anomalies
,
delayed
psychomotor
development
and
pharmaco-resistant
epilepsy
.
We
present
a
5
-
year
-old
girl
with
severe
delay
in
growth
and
development
,
microcephaly
,
mild
facial
dismorphy
and
epilepsy
.
The
pregnancy
was
complicated
by
intrauterine
growth
retardation
.
Generalized
muscle
hypotonia
was
observed
at
birth
.
First
seizures
started
at
age
of
9
months
as
unilateral
convulsive
status
epilepticus
(
SE
)
,
sometimes
with
bilateral
generalization
.
Seizures
were
often
triggered
by
fever
and
were
resistant
to
antiepileptic
treatment
.
Introduction
of
lamotrigine
and
valproate
therapy
led
to
complete
seizure
control
at
the
age
of
33
months
.
Electroencephalographic
(
EEG
)
finding
was
typical
at
the
beginning
.
After
transitory
improvement
between
age
four
and
five
years
,
epileptiform
EEG
activity
appeared
again
at
the
age
of
five
years
,
without
observed
clinical
seizures
.
Magnetic
resonance
imaging
showed
diffuse
brain
atrophy
and
delay
in
myelination
.
Using
Multiplex
ligation-dependent
probe
amplification
(
MLPA
)
method
,
we
disclosed
heterozygote
microdeletation
of
the
distal
part
of
the
short
arm
of
chromosome
4
(
4
p
16
)
.
We
present
a
clinical
course
of
epilepsy
in
a
patient
with
Wolf-
Hirschhorn
syndrome
.
The
diagnosis
was
verified
by
modern
molecular
technique
.
This
is
the
first
molecular
characterization
of
a
patient
with
WHS
performed
in
our
country
.
