Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.

[triple a syndrome]

Allgrove syndrome (or triple A syndrome ) is a rare autosomal recessive disorder characterized by alacrima , achalasia , ACTH-resistant adrenal insufficiency and autonomic /neurological abnormalities . It is caused by mutations in the AAAS gene , located on chromosome 12 q 13 . We describe a 42 -year -old patient who presented with neuropathy and was found to have alacrima , achalasia , mild autonomic dysfunction with significant central and peripheral nervous system involvement . She was later diagnosed with oligosymptomatic triple A syndrome . Sequencing of the AAAS gene identified two heterozygous mutations within exon 14 and its donor splice site (p .L 430 F-c .1288 C >T and c .1331 +1 G >T ), one of which is novel . Allgrove syndrome should be suspected in patients with neurological impairment associated with two or more of the main symptoms (alacrima , achalasia or adrenal insufficiency ).

Diseases
Validation

Diseases presenting "neuropathy" symptom

adrenomyeloneuropathy

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

focal myositis

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

inclusion body myositis

krabbe disease

malignant atrophic papulosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neuralgic amyotrophy

oculocutaneous albinism

pendred syndrome

phenylketonuria

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

wolf-hirschhorn syndrome

This symptom has already been validated