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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
"birth weight"
symptom
classical phenylketonuria
congenital diaphragmatic hernia
congenital toxoplasmosis
cutaneous mastocytosis
dracunculiasis
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
phenylketonuria
wolf-hirschhorn syndrome
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