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Macular Cherry-Red Spot Helps Diagnose Rare Storage Disorder in an Infant with Repeated Respiratory Tract Infections: Case Report.
[gm1 gangliosidosis]
Abstract
A
seven
-
month
-old
male
child
was
brought
in
for
an
eye
test
for
poor
vision
and
nystagmus
noticed
from
four
months
of
age
.
The
child
had
delayed
milestones
of
development
and
multiple
(
six
times
)
episodes
of
unexplained
lower
respiratory
tract
infection
(
from
two
months
of
age
)
treated
by
pediatricians
at
different
centers
without
complete
cure
.
Fundus
examination
showed
bilateral
cherry-
red
spots
at
the
macula
.
There
were
diffusely
distributed
hyper-
pigmented
patches
(
Mongolian
spots
)
on
the
back
and
extensor
aspect
of
the
extremities
.
The
case
was
sent
back
to
the
pediatricians
for
a
re
-evaluation
to
rule
out
storage
disorder
.
Lysosomal
enzyme
assay
in
the
leucocytes
showed
a
significantly
reduced
β-galactosidase
level
(
15
.
6
 
nmol
/
hr
/
mg
protein
in
contrast
to
a
normal
range
of
79
.
6
to
480
.
0
)
.
This
confirmed
the
patient
to
be
a
case
of
lysosomal
storage
disease
,
the
GM
1
gangliosidosis
(
type
I
)
.
