Allgrove syndrome (AS) is an autosomal recessive congenital disease, caused by mutations in the AAAS gene, and is characterized by the triad of Addison's disease, achalasia and alacrima. The present study describes three newly diagnosed cases of AS, in which genetic analysis of the AAAS gene was used to identify AAAS gene mutations, to enhance the understanding of the pathogenesis and clinical ...

BACKGROUND Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13. CASE PRESENTATION We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features,...

T riple-A syndrome (MIM 231550) is an autosomal recessive disorder characterised by adrenocorticotrophin hormone resistant adrenal insufficiency, achalasia of the oesophageal cardia, and alacrima. The gene, previously localised to chromosome 12q13, 3 was recently identified and denoted as AAAS. Among the five homozygous truncating mutations that were characterised, a single splice donor splice ...

Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0) and after o...

The triple A or Allgrove's syndrome (MIM*231550) is an autosomal recessive disease characterized by the triad of adrenocorticotropic hormone (ACTH) resistant adrenal insufficiency, achalasia and alacrima. Since its first description by Allgrove et al. (1978) more than 70 cases from all over the world have been reported. The syndrome manifests itself during the first decade of life with severe h...

Triple A (AAA) syndrome (also known as Allgrove syndrome) is a rare multi systemic disorder. The disease usually manifests with adrenal insufficiency in early childhood. Apart from insufficiency, alacrima and achalasia represent the two other classical findings associated disease. Motor neuron like presentation of seldom reported literature. We describe case diagnosed since childhood who later ...

Mutations in the AAAS gene coding for the nuclear pore complex protein ALADIN lead to the autosomal recessive disorder triple A syndrome. Triple A patients present with a characteristic phenotype including alacrima, achalasia and adrenal insufficiency. Patient fibroblasts show increased levels of oxidative stress, and several in vitro studies have demonstrated that the nucleoporin ALADIN is inv...

The triple A syndrome (MIM 231550) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia and alacrima. The frequent association with a variety of neurological features may result in a severely disabling disease. We previously mapped the syndrome to a 6 cM interval on chromosome 12q13 and have now refined the critical region to 0 cM between KRT8 and D12S1651. O...

achalasia is a primary motor disorder of the esophagus, in which esophageal emptying is impaired. diagnosis of achalasia is based on clinical findings and confirmed by radiologic, endoscopic and manometric evaluations. several treatments for achalasia have been introduced. we searched the pubmed database for original articles and meta-analyses about achalasia to summarize the current knowledge ...