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Hypogammaglobulinaemia in a patient with ring chromosome 21.
[monosomy 21]
An
8
year
old
boy
with
ring
chromosome
21
who
was
susceptible
to
sinorespiratory
infections
due
to
hypogammaglobulinaemia
is
reported
.
He
presented
with
the
characteristic
features
of
monosomy
21
syndrome
,
such
as
psychomotor
retardation
,
hypertonia
,
large
saccular
ears
,
prominent
nasal
bridge
,
micrognathia
,
thrombocytopenia
,
and
patent
ductus
arteriosus
.
His
serum
IgG
concentration
was
less
than
1
.
5
g
/
l
at
3
years
and
6
months
of
age
after
repeated
hospitalisations
with
pneumonia
,
otitis
media
,
and
convulsions
.
Regular
replacement
of
intravenous
gammaglobulin
effectively
reduced
such
infectious
episodes
.
A
predisposition
to
infection
in
patients
with
ring
chromosome
21
may
be
explained
by
hypogammaglobulinaemia
and
merit
treatment
with
gammaglobulin
.