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[Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis].
[homocystinuria without methylmalonic aciduria]
A
hemolytic-uremic
syndrome
associated
with
methylmalonic
aciduria
and
homocystinuria
is
seen
during
the
first
weeks
of
life
.
A
molecular
defect
in
the
CbIC
mutation
has
been
found
.
This
report
describes
a
new
case
with
this
association
.
A
girl
,
the
second
in
this
family
,
was
born
at
term
:
her
birth
weight
was
2
,
100
g
,
height
was
47
cm
and
head
circumference
31
.
5
cm
.
She
was
admitted
at
32
days
of
age
with
hemolytic
anemia
and
fragmencytosis
,
renal
failure
and
thrombocytopenia
.
The
renal
failure
required
peritoneal
dialysis
followed
by
hemofiltration
.
The
signs
of
pancytopenia
of
central
origin
and
liver
failure
seen
at
that
time
raised
the
possibility
of
an
intracellular
defect
of
B
12
metabolism
.
Chromatography
of
the
amino
acids
and
organic
acids
in
the
urine
and
plasma
revealed
homocystinemia
,
hypomethioninemia
,
homocystinuria
and
methylmalonic
aciduria
.
The
deficient
B
12
metabolism
was
confirmed
in
fibroblasts
which
showed
deficits
in
both
methyl
and
adenosyl-cobalamin
synthesis
.
The
metabolic
disturbances
were
completely
resolved
after
intravenous
administration
of
hydroxy-cobalamin
(
2
,
000
micrograms
per
day
)
and
folinic
acid
(
25
mg
per
day
)
for
5
days
.
But
the
neurological
abnormalities
persisted
,
with
retinitis
pigmentosa
and
major
leukodystrophic
changes
seen
by
MRI
,
and
the
infant
died
one
month
later
.
This
new
case
emphasizes
the
importance
of
systematically
screening
all
cases
of
neonatal
hemolytic-uremic
syndrome
for
this
autosomal
recessive
disorder
.
Diseases
Validation
Diseases presenting
"renal failure"
symptom
cholangiocarcinoma
congenital diaphragmatic hernia
cystinuria
erdheim-chester disease
fabry disease
heparin-induced thrombocytopenia
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kindler syndrome
legionellosis
oculocutaneous albinism
primary hyperoxaluria type 1
scrub typhus
systemic capillary leak syndrome
This symptom has already been validated