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Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case.
[x-linked adrenoleukodystrophy]
Contiguous
ABCD
1
DXS
1357
E
deletion
syndrome
(
CADDS
)
is
a
contiguous
deletion
syndrome
involving
the
ABCD
1
and
DXS
1357
E
/
BAP
31
genes
on
Xq
28
.
Although
ABCD
1
is
responsible
for
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
,
its
phenotype
differs
from
that
of
CADDS
,
which
manifests
with
many
features
of
Zellweger
syndrome
(
ZS
)
,
including
severe
growth
and
developmental
retardation
,
liver
dysfunction
,
cholestasis
and
early
infantile
death
.
We
report
here
the
fourth
case
of
CADDS
,
in
which
a
boy
had
dysmorphic
features
,
including
a
flat
orbital
edge
,
hypoplastic
nose
,
micrognathia
,
inguinal
hernia
,
micropenis
,
cryptorchidism
and
club
feet
,
all
of
which
are
shared
by
ZS
.
The
patient
achieved
no
developmental
milestones
and
died
of
pneumonia
at
8
months
.
Biochemical
studies
demonstrated
abnormal
metabolism
of
very
long
chain
fatty
acids
,
which
was
higher
than
that
seen
in
X-
ALD
.
Immunocytochemistry
and
Western
blot
showed
the
absence
of
ALD
protein
(
ALDP
)
despite
the
presence
of
other
peroxisomal
proteins
.
Pathological
studies
disclosed
a
small
brain
with
hypomyelination
and
secondary
hypoxic-ischemic
changes
.
Neuronal
heterotopia
in
the
white
matter
and
leptomeningeal
glioneuronal
heterotopia
indicated
a
neuronal
migration
disorder
.
The
liver
showed
fibrosis
and
cholestasis
.
The
thymus
and
adrenal
glands
were
hypoplastic
.
Array
comparative
genomic
hybridization
(
CGH
)
analysis
suggested
that
the
deletion
was
a
genomic
rearrangement
in
the
90
-
kb
span
starting
in
DXS
1357
E
/
BACP
31
exon
4
and
included
ABCD
1
,
PLXNB
3
,
SRPK
3
,
IDH
3
G
and
SSR
4
,
ending
in
PDZD
4
exon
8
.
Thus
,
the
absence
of
ALDP
,
when
combined
with
defects
in
the
B-
cell
antigen
receptor
associated
protein
31
(
BAP
31
)
and
other
factors
,
severely
affects
VLCFA
metabolism
on
peroxisomal
functions
and
produces
ZS
-like
pathology
.
Diseases
Validation
Diseases presenting
"developmental milestones"
symptom
alexander disease
cohen syndrome
krabbe disease
triple a syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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