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Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective.
[krabbe disease]
Krabbe
disease
is
an
infantile
-onset
progressive
leukodystrophy
.
The
classic
presentation
includes
excessive
irritability
,
muscle
hypertonicity
,
developmental
delay
,
failure
to
thrive
,
peripheral
neuropathy
,
seizures
,
and
optic
nerve
atrophy
.
The
authors
report
a
rare
case
of
optic
nerve
enlargement
early
in
infantile
Krabbe
disease
.
Their
case
demonstrates
proximal
prechiasmatic
enlargement
of
the
nerves
.
They
discuss
the
pathophysiological
and
clinical
correlation
of
optic
nerve
enlargement
in
Krabbe
disease
and
in
other
disorders
.
Although
Krabbe
disease
does
not
feature
in
initial
differential
of
optic
nerve
enlargement
in
children
,
its
inclusion
and
early
identification
facilitate
a
timely
diagnosis
of
this
rapidly
progressive
fatal
disease
.
Diseases
Validation
Diseases presenting
"developmental delay"
symptom
22q11.2 deletion syndrome
achondroplasia
alexander disease
alpha-thalassemia
aniridia
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated