Rare Diseases Symptoms Automatic Extraction
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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
.
