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Neonatal adrenoleukodystrophy: a clinical, pathologic, and biochemical study.
[neonatal adrenoleukodystrophy]
Neonatal
adrenoleukodystrophy
constitutes
a
distinct
genetic
disorder
of
autosomal
recessive
inheritance
,
and
is
distinguishable
from
the
cerebro-hepato-
renal
syndrome
of
Zellweger
and
X-
linked
juvenile
adrenoleukodystrophy
,
although
all
three
conditions
store
very
long
chain
fatty
acids
.
Abnormal
clinical
features
in
neonatal
adrenoleukodystrophy
are
generally
present
at
birth
,
and
include
muscle
hypotonia
,
severe
psychomotor
retardation
,
and
failure
to
thrive
.
These
infants
are
generally
blind
and
deaf
,
with
seizures
developing
during
their
first
few
weeks
.
A
retinopathic
"
leopard
spot
"
is
common
,
and
should
help
identify
this
disorder
.
The
brains
of
four
infants
who
died
of
neonatal
adrenoleukodystrophy
were
biochemically
analyzed
for
complex
lipids
,
including
cholesterol
,
cholesterol
esters
,
total
phospholipids
,
total
galactolipids
,
and
gangliosides
.
Additional
analyses
included
the
separation
and
identification
of
very
long
chain
fatty
acids
and
various
forms
of
brain
plasmalogen
.
Analyses
of
brains
with
neonatal
adrenoleukodystrophy
revealed
the
chemical
identification
of
at
least
two
stored
lipid
products
.
Very
long
chain
fatty
acids
are
present
,
especially
in
cholesterol
esters
,
and
vinyl
ether
ethanolamine
plasmalogens
are
markedly
elevated
.
The
storage
of
vinyl
ether
plasmalogen
in
brains
of
infants
dying
of
neonatal
adrenoleukodystrophy
clearly
distinguishes
them
from
those
with
cerebro-hepato-
renal
syndrome
of
Zellweger
,
which
fail
to
synthesize
plasmalogens
.
Diseases
Validation
Diseases presenting
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated