Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.

[triple a syndrome]

The triple A syndrome is a rare autosomal recessive disease that is characterised by the triad of adrenocorticotropin (ACTH )-resistant adrenal insufficiency , achalasia and alacrima . In most patients , neurological and dermatological abnormalities are associated features . We report on the first Bosnian patient with triple A syndrome . Endocrine investigation confirmed primary adrenal insufficiency at the age of 5 .8 years . Two months later , achalasia was diagnosed , and in the presence of alacrima , the patient satisfies the diagnostic criteria of triple A syndrome . In addition , a large number of associated neurological and dermatological features were present in this patient . Moreover , he has dysmorphic facial features , which have not been previously described in triple A syndrome . Triple A syndrome was confirmed by molecular analysis , revealing a nonsense mutation p .W 84 X in the AAAS gene . The parents are both heterozygous carriers of the mutation . The affected twin brother unfortunately died from hypoglycaemic shock , despite a normal cortisol rise in an ACTH stimulation test . Further , triple A syndrome patients carrying the identical homozygous p .W 84 X mutation have to be studied to assess a genotype-phenotype relationship for this mutation .

Diseases
Validation

Diseases presenting "large number" symptom

acute rheumatic fever

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

canavan disease

coats disease

cowden syndrome

dedifferentiated liposarcoma

dracunculiasis

epidermolysis bullosa simplex

fabry disease

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

kindler syndrome

legionellosis

malignant atrophic papulosis

neuralgic amyotrophy

phenylketonuria

pleomorphic liposarcoma

primary effusion lymphoma

scrub typhus

severe combined immunodeficiency

triple a syndrome

waldenström macroglobulinemia

well-differentiated liposarcoma

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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