Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome.

[triple a syndrome]

The triple A syndrome is characterized by the main features adrenal insufficiency , achalasia and alacrima . Other organ systems can be involved in a variable manner .We report clinical and novel molecular findings in a 6 .8 -year -old Kurdish boy , who presented with relapsing vomiting and failure to thrive . He was diagnosed as having achalasia and primary adrenocortical hypofunction . History and clinical examination showed that the boy was unable to produce tears . In addition , a large number of associated neurological and dermatological features was present in this patient . Thus , the clinical diagnosis of triple A syndrome was made .Initial molecular marker analysis supported linkage to the triple A critical region on chromosome 12 q 13 . Further , a homozygous G -->A transition in exon 9 of the newly identified AAAS gene , resulting in a stop codon (W 295 X ) and predicting a truncated protein with loss of function , confirmed the diagnosis . This new mutation was also detected in another family of Kurdish origin . In turned out that both families were related .

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

You can validate or delete this automatically detected symptom