Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"seizures"
symptom
alexander disease
alpha-thalassemia
cadasil
canavan disease
child syndrome
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
lamellar ichthyosis
legionellosis
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oligodontia
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated