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[Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12].
[homocystinuria without methylmalonic aciduria]
A
deficient
supply
of
vitamin
B
12
can
appear
early
during
the
first
months
of
life
,
with
haematological
and
neurological
symptoms
in
the
form
of
progressive
encephalopathy
.
We
describe
two
patients
with
megaloblastic
anaemia
and
halted
somatic
and
cranial
perimeter
development
,
accompanied
by
neurological
involvement
.
Both
of
them
had
an
increased
rate
of
excretion
of
methylmalonic
acid
,
as
well
as
homocysteine
,
in
urine
with
extremely
low
serum
levels
of
vitamin
B
12
,
as
compared
to
normal
values
.
Both
patients
were
breastfed
only
.
The
study
of
the
mothers
revealed
asymptomatic
pernicious
anaemia
.
Treatment
with
hydroxycobalamine
led
to
clinical
recovery
and
psychomotor
development
progressively
returned
to
normal
.
Vitamin
B
12
deficiency
due
to
a
shortage
of
supply
from
the
mother
must
be
taken
into
account
in
the
differential
diagnosis
of
possibly
reversible
severe
encephalopathies
.
Diseases
Validation
Diseases presenting
"psychomotor development"
symptom
alexander disease
canavan disease
classical phenylketonuria
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
monosomy 21
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
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