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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
"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