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Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.
[homocystinuria without methylmalonic aciduria]
Inborn
errors
of
cobalamin
(
Cbl
)
absorption
and
metabolism
form
a
large
group
of
rare
diseases
that
include
Cbl-
C
disorder
.
Among
the
renal
complications
of
Cbl-
C
disorder
,
atypical
hemolytic
uremic
syndrome
(
HUS
)
is
the
least
common
and
has
been
described
only
in
a
small
number
of
cases
.
Four
patients
were
admitted
to
our
clinic
after
15
-
30
days
of
life
with
vomiting
associated
with
poor
sucking
,
failure
to
thrive
,
lethargy
and
hypotonia
.
Examinations
showed
thrombocytopenia
and
microangiopathic
hemolytic
anemia
associated
with
renal
damage
.
The
neonates
had
high
blood
homocysteine
levels
,
increased
urinary
levels
of
both
homocystine
and
methylmalonic
acid
,
increased
propionylcarnitine
(
C
3
)
levels
and
an
increased
C
3
/
acetylcarnitine
ratio
.
Homozygosity
for
c
.
271
-
272
dupA
(
p
.
Arg
91
LysfsX
14
)
of
the
MMACHC
gene
was
detected
in
three
patients
,
and
heterozygosity
for
c
.
271
-
272
dupA
and
c
.
666
C
>
A
(
p
.
Tyr
222
X
)
in
one
patient
,
which
confirmed
the
diagnosis
of
Cbl-
C
disorder
.
Treatment
with
parenteral
hydroxycobalamin
in
combination
with
folic
acid
and
betaine
gradually
normalized
the
metabolic
test
findings
and
hematological
and
renal
parameters
after
about
1
week
.
Atypical
HUS
in
neonates
with
Cbl-
C
disorder
may
be
associated
with
mild
to
moderate
renal
involvement
also
in
early
-onset
disease
,
and
early
adequate
therapy
can
reverse
renal
damage
.
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