[Allgrove syndrome. Report on a family].

[triple a syndrome]

Triple A or Allgrove syndrome is a rare autosomal recessive disease with alacrima , achalasia , and ACTH-resistant adrenal insufficiency . It is usually associated with neurological disorders . Recently , mutations in the AAAS , a candidate gene mapped to chromosome 12 q 13 , were identified . We report a family with seven affected siblings . All of them have signs of alacrima , four were operated on for achalasia , five have neurological abnormalities including cranial nerve abnormalities , amyotrophic lateral sclerosis , pyramidal syndrome , distal motor neuropathy , and amyotrophy , and two have adrenal insufficiency . Triple A syndrome should be considered in any young patient with alacrima .

Diseases
Validation

Diseases presenting "mutations in the aaas" symptom

triple a syndrome

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