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INTRODUCTION:
Allgrove syndrome or called
4A syndrome;
achalasia-addisonianism-alacrima-autonomic neuropathy.
This syndrome is first
described by Allgrove and colleagues In 1978
in 2 unrelated pairs of siblings with isolated
glucocorticoid failure and achalasia of the esophagus
cardia, then other cases were described with alacrima
and autonomic nervous problems.
the pathology of this
syndrome may be due to a progressive loss of cholinergic
function throughout the body.
It is a rare syndrome with autosomal recessive inheritance; the gene is defined as
ALADIN gene located at chromosome (12q13).
The mortality is usually due
to unrecognized adrenal crisis.
The most frequent initial
presentation is a hypoglycemic seizure secondary to
glucocorticoid deficiency.
Other features including
alacrima leading to severe keratopathy, achalasia
leading to frequent vomiting and growth failure, mild
mental retardation and autonomic neuropathy.
On examination the patient
has a distinct facial appearance consists of a long thin
face with a long philtrum, narrow upper lip, and a
down-turned mouth. Conjunctival injection as a sign of
alacrima if examined by slit lamp may reveal corneal
ulceration. Skin examination shows hyperpigmentation and
may be hyperkeratosis and fine fissuring of the palms of
the hand.
Neurologic features may be hyperreflexia,
dysarthria, hypernasal speech with palatopharyngeal
incompetence, and ataxia.
Lab studies usually
show hypoglycemia low cortisol, high ACTH and may show
anti-adrenal antibodies.
Barium study will show
the achalasia and the C.T will show atrophic lacrimal
glands. The treatment will include glucocorticoid
replacement therapy to avoid an adrenal crisis and to
allow for normal growth. Achalasia is best managed with
surgical correction and alacrima needs regular
artificial tears.
Effective management will
diminish morbidity and mortality and allows the patient
to have a normal life span.
CASE REPORT:
A 9-year-old male child, his
first presentation to our hospital was two years back
because of fever, irritability and generalized tonic
clonic convulsions.
He had past history of
repeated admissions in a peripheral hospital since the
age of three years because of the same complaint,
according to the mother in one admission his blood sugar
was reported low and since that time he was put on
anticonvulsant.
Because of red eyes he was
seen by ophthalmologist and diagnosed wrongly as spring
catarrh, and because of nasal speech he was seen by ENT
surgeon were adenotonsellectomy was done without
improvement.
He was born by N.S.V.D
to a consanguineous parents one male sibling died at age
of 4 years because of sudden loss of consciousness but
the cause of death was not known.
On examination he has
growth failure as his weight and length were far below
the 5th percentile.
Vital signs were stable
except for B.P which was low (80/50). He has generalized
deep skin pigmentation with long thin face and red eyes,
his mentality is subnormal, he has nasal speech and
difficult articulation. His C.N.S examination showed
generalized mild hypotonia and moderate hyper-reflexia.
His cardiovascular,
respiratory and abdominal examinations were within
normal.
His investigations showed
normal C.B.C, renal and hepatic functions, TSH, T4 were
normal with negative anti-thyroid antibodies. his blood
sugar was only 20 mg/dl, his serum cortisol was low (
0.2 ugm/dl ), E.E.G showed paroxysmal brain discharge.
Barium study showed achalasia and C.T brain is normal
there was no report about the lacrimal glands.
The patient was referred to
the pediatric surgeon and esophageal dilatation was done
to improve the achalasia. |
