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Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.
[hirschsprung disease]
We
report
a
child
with
short
stature
since
birth
who
was
otherwise
well
,
presenting
at
2
.
8
years
with
progressive
granulomatous
skin
lesions
when
diagnosed
with
severe
T
cell
immunodeficiency
.
When
previously
investigated
for
short
stature
,
and
at
the
time
of
current
investigations
,
she
had
no
radiological
skeletal
features
characteristics
for
cartilage
hair
hypoplasia
,
but
we
found
a
disease
causing
RMRP
(
RNase
mitochondrial
RNA
processing
endoribonuclease
)
gene
mutation
.
Whilst
search
for
HLA
matched
unrelated
donor
for
haematopoietic
stem
cell
transplantation
(
HSCT
)
was
underway
,
she
developed
rapidly
progressive
EBV-related
lymphoproliferative
disorder
requiring
laparotomy
and
small
bowel
resection
,
and
was
treated
with
anti-
B
cell
monoclonal
antibody
and
eventually
curative
allogeneic
HSCT
.
Screening
for
RMRP
gene
mutations
should
be
part
of
immunological
evaluation
of
patients
with
'
severe
and
/
or
combined
'
T
cell
immunodeficiency
of
unknown
origin
,
especially
when
associated
with
short
stature
and
regardless
of
presence
or
absence
of
radiological
skeletal
features
.
Diseases
Validation
Diseases presenting
"and was treated with anti-b cell monoclonal antibody and eventually curative allogeneic hsct"
symptom
hirschsprung disease
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