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Diffusion-weighted Magnetic Resonance Imaging in the Early Diagnosis of Neonatal Adrenoleukodystrophy.
[neonatal adrenoleukodystrophy]
A
newborn
baby
girl
developed
seizures
right
after
birth
.
On
the
fourth
day
,
the
baby
was
examined
using
diffusion
sequence
magnetic
resonance
imaging
(
MRI
)
and
diagnosed
to
have
neonatal
adrenoleukodystrophy
.
Laboratory
findings
confirmed
the
diagnosis
.
This
is
the
first
case
of
neonatal
adrenoleukodystrophy
(
NALD
)
where
diffusion
MRI
sequence
helped
in
the
diagnosis
.
We
find
association
of
NALD
with
seizures
at
birth
is
an
extremely
rare
occurrence
,
and
so
far
,
only
one
case
has
been
mentioned
in
the
literature
.
Diseases
Validation
Diseases presenting
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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