Case Report
Copyright ©2006 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Aug 7, 2006; 12(29): 4764-4766
Published online Aug 7, 2006. doi: 10.3748/wjg.v12.i29.4764
Mutations of the AAAS gene in an Indian family with Allgrove's syndrome
Ashis Mukhopadhya, Sumita Danda, Angela Huebner, Ashok Chacko
Ashis Mukhopadhya, Sumita Danda, Ashok Chacko, Department of Gastrointestinal Sciences, Christian Medical College, Vellore, India
Angela Huebner, Children’s Hospital, Technical University Dresden, Germany
Correspondence to: Ashis Mukhopadhya, Department of Gastrointestinal Sciences, Christian Medical College, Ida Scudder Road, Vellore 632004, India.
Telephone: +91-416-2282148 Fax: +91-416-2232035
Received: March 22, 2006
Revised: March 28, 2006
Accepted: April 21, 2006
Published online: August 7, 2006

The triple A or Allgrove's syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. Mutations of the Achalasia-Addisonianism-Alacrima-Syndrome (AAAS) gene on chromosome 12q13 are associated with this syndrome. We report an Indian family where two siblings were homozygous for a known mutation of the AAAS gene and presented with the classical triad of symptoms. The mother and the brother were heterozygous and asymptomatic. The affected siblings had iron deficiency anemia and the younger sister had pes cavus and palmoplantar keratosis. Neurological symptoms were absent in both affected children. Recognition of this syndrome can lead to early treatment of adrenal insufficency and genetic counselling.

Keywords: Allgrove's syndrome, Triple A syndrome, Autosomal recessive, Genetic mutation, India