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[Allgrove's syndrome].
[triple a syndrome]
Triple
A
syndrome
is
an
autosomal
recessive
disease
causing
achalasia
,
alacrima
and
adrenal
involvement
with
isolated
glucocorticoid
deficiency
.
Less
than
70
cases
have
been
reported
worldwide
.
We
report
a
case
of
familial
adrenal
insufficiency
with
hyperpigmentation
diagnosed
in
a
14
month
-old
child
.
A
2
year
-old
boy
,
a
product
of
consanguineous
parents
,
was
referred
to
our
institution
for
evaluation
of
melanoderma
.
Since
birth
the
boy
had
suffered
from
vomiting
and
diarrhea
.
Aged
6
months
,
mucosal
erosive
lesions
had
appeared
associated
with
fever
and
further
complicated
at
the
age
of
one
year
by
alacrima
.
At
the
age
of
14
months
,
hyperpigmentation
of
all
the
skin
had
occurred
.
The
family
history
is
significant
:
two
siblings
(
a
girl
and
a
boy
)
died
of
hypoglycemia
with
melanoderma
and
alacrima
at
the
age
of
5
and
3
respectively
.
Physical
examination
showed
generalized
hyperpigmentation
particularly
marked
on
the
lips
and
genitalia
.
The
genitalia
of
our
patient
were
normal
.
Cortisol
was
23
.
7
microns
/
l
(
normal
:
193
-
772
)
;
ACTH
was
11
,
722
pg
/
ml
(
normal
:
10
-
60
)
and
computed
tomography
of
the
abdomen
confirmed
adrenal
gland
hypoplasia
.
Treatment
was
initiated
with
hydrocortisone
at
the
dose
of
10
mg
/
day
.
At
the
age
of
3
,
the
boy
developed
plantar
hyperkeratosis
.
When
solid
food
was
introduced
,
vomiting
and
regurgitation
increased
.
An
oesophagogram
with
fibroscopy
revealed
achalasia
of
the
cardia
.
This
was
successfully
corrected
by
surgery
.
Schimer
's
test
confirmed
alacrima
.
Our
case
report
,
characteristic
of
triple
A
syndrome
,
is
unusual
in
view
of
the
presence
of
plantar
keratoderma
and
absence
of
any
neurological
abnormalities
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated
