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Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease.
[homocystinuria without methylmalonic aciduria]
Cobalamin
C
(
cblC
)
defect
,
the
most
common
inborn
error
of
cobalamin
metabolism
,
is
a
multisystem
disorder
usually
presenting
with
progressive
neurological
,
haematological
and
ophthalmological
signs
.
We
report
on
a
cblC
patient
diagnosed
in
the
newborn
age
who
developed
nearly
normal
during
the
first
year
of
life
.
During
an
upper
respiratory
tract
infection
with
severe
hyperpyrexia
at
the
age
of
14
months
he
developed
an
acute
encephalopathic
crisis
resulting
in
severe
mental
retardation
and
marked
internal
and
external
cerebral
atrophy
.
Hyperacute
encephalopathic
crises
have
not
been
observed
so
far
in
patients
with
cblC
defect
.
It
remains
unclear
,
if
this
association
is
incidental
or
if
the
underlying
metabolic
defect
may
have
predisposed
the
brain
tissue
to
hyperpyrexia-induced
damage
.
Diseases
Validation
Diseases presenting
"first year"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
benign recurrent intrahepatic cholestasis
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
phenylketonuria
pleomorphic liposarcoma
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
wolf-hirschhorn syndrome
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