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Germinal matrix hemorrhage in Zellweger syndrome.
[zellweger syndrome]
A
term
male
newborn
was
noted
to
have
severe
diffuse
hypotonia
,
hyporeflexia
,
hepatosplenomegaly
,
and
characteristic
abnormal
facies
of
Zellweger
syndrome
,
the
diagnosis
of
which
was
confirmed
by
identification
of
2
mutations
including
Nt
2098
insT
,
a
frameshift
with
premature
stop
codon
in
exon
13
,
as
well
as
a
novel
second
mutation
at
Nt
3038
G
→
A
(
Arg
1013
His
)
on
skin
fibroblast
testing
.
His
brain
magnetic
resonance
imaging
(
MRI
)
demonstrated
bilateral
germinolytic
cysts
with
unilateral
hemorrhagic
transformation
.
Germinolytic
cysts
are
one
of
the
characteristic
radiographic
features
of
Zellweger
syndrome
,
but
germinal
matrix
hemorrhage
has
never
been
reported
.
Germinal
matrix
hemorrhage
is
common
in
premature
infants
,
but
found
in
only
4
%
of
normal
term
infants
.
Germinal
matrix
hemorrhage
was
seen
in
a
case
of
Zellweger
syndrome
with
a
novel
mutation
.
Diseases
Validation
Diseases presenting
"characteristic radiographic features"
symptom
zellweger syndrome
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