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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
.
Diseases
Validation
Diseases presenting
"psychomotor retardation"
symptom
alexander disease
aniridia
canavan disease
cohen syndrome
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated