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The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.
[krabbe disease]
Inherited
encephalopathies
include
a
broad
spectrum
of
heterogeneous
disorders
.
To
provide
a
correct
diagnosis
,
an
integrated
approach
including
genetic
testing
is
warranted
.
We
report
seven
patients
with
difficult
to
diagnose
inborn
paediatric
encephalopathies
.
The
diagnosis
could
not
be
attained
only
by
means
of
clinical
and
laboratory
investigations
and
MRI
.
Additional
genetic
testing
was
required
.
Cytogenetics
,
PCR
based
tests
,
and
array-based
comparative
genome
hybridization
were
performed
.
In
4
patients
with
impaired
language
abilities
we
found
the
presence
of
microduplication
in
the
region
16
q
23
.
1
affecting
two
dose-sensitive
genes
:
WWOX
(
OMIM
605131
)
and
MAF
(
OMIM
177075
)
(
1
case
)
,
an
interstitial
deletion
of
the
17
p
11
.
2
region
(
2
patients
further
diagnosed
as
Smith-
Magenis
syndrome
)
,
and
deletion
encompassing
first
three
exons
of
Myocyte
Enhancer
Factor
gene
2
MEF
2
C
(
1
case
)
.
The
two
other
cases
represented
progressing
dystonia
.
Characteristic
GAG
deletion
in
DYT
1
consistently
with
the
diagnosis
of
torsion
dystonia
was
confirmed
in
1
case
.
Last
enrolled
patient
presented
with
clinical
picture
consistent
with
Krabbe
disease
confirmed
by
finding
of
two
pathogenic
variants
of
GALC
gene
and
the
absence
of
mutations
in
PSAP
.
The
integrated
diagnostic
approach
including
genetic
testing
in
selected
examples
of
complicated
hereditary
diseases
of
the
brain
is
largely
discussed
in
this
paper
.
Diseases
Validation
Diseases presenting
"broad spectrum"
symptom
adrenomyeloneuropathy
cushing syndrome
cystinuria
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
focal myositis
hereditary cerebral hemorrhage with amyloidosis
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
triple a syndrome
waldenström macroglobulinemia
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