title: Novel Mutations in a Patient with Triple A Syndrome.
abstract: BACKGROUND
  Triple A syndrome (Allgrove syndrome), a rare autosomal recessive disorder, is characterized by adrenal insufficiency, achalasia cardia and alacrimia. It is caused by mutations in AAAS gene which encodes a protein called ALADIN.
  
  
  METHODS
  8-year-old boy who presented with hypoglycemic seizures, dysphagia, dry eyes and hyperpigmentation. Investigations confirmed achalasia cardia and adrenal insufficiency. Sequencing of AAAS gene revealed two novel mutations in compound heterozygous state (c.1101delG/ c.1310_1311delCT).
  
  
  RESULTS
  Patient was managed with hydrocortisone and artificial tears.
  
  
  CONCLUSIONS
  Sequencing analysis should be done to confirm the diagnosis of clinically suspected Triple A syndrome.
authors.affiliation: Department of Pediatrics and *Central Research Laboratory, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India; and Klinik fur Kinder- und Jugendmedizin, Technische Universitat Dresden, Germany. Correspondence to: Dr Jyoti Sanghvi, Department of Pediatrics, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India. jyotisanghvi@yahoo.com.
authors.forename: Jyoti
authors.initials: J
authors.lastname: Sanghvi
authors.forename: Ajit Anand
authors.initials: AA
authors.lastname: Asati
authors.forename: Ravindra
authors.initials: R
authors.lastname: Kumar
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D004931:Esophageal Achalasia / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*