title: [Allgrove syndrome. Report on a family].
abstract: 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 12q13, 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.
authors.affiliation: Service d'Ophtalmologie, CHU Habib Bourguiba, 3029, Sfax, Tunisie. dorra_sellami@yahoo.fr
authors.forename: D
authors.initials: D
authors.lastname: Sellami
authors.forename: W
authors.initials: W
authors.lastname: Bouacida
authors.forename: F
authors.initials: F
authors.lastname: Frikha
authors.forename: C
authors.initials: C
authors.lastname: Triki
authors.forename: Z
authors.initials: Z
authors.lastname: BenZina
authors.forename: S
authors.initials: S
authors.lastname: Ben Salah
authors.forename: J
authors.initials: J
authors.lastname: Feki
authors.forename: A
authors.initials: A
authors.lastname: Sellami
mesh_terms: D000224:Addison Disease / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D015352:Dry Eye Syndromes / Q000235:genetics*; D004931:Esophageal Achalasia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome