A triple A syndrome with neurological findings; c464G>A mutation in the AAAS gene.

Abstract

Background and purpose: Allgrove syndrome or triple A (3A) syndrome is a multisystem disorder classically defined as the triad of esophageal achalasia, alacrimia and adrenal insufficiency due to adrenocorticotropic hormone insensitivity. Approximately one third of patients experience neurological dysfunction, including peripheral and autonomic nervous system dysfunction, leading some authors to use the term 4A syndrome (achalasia, alacrimia, adrenal insufficiency and autonomic abnormalities). Since its first description in 1978, knowledge of its clinical and genetic features has increased; however, the current literature is limited to case reports and case reviews.

Methods: A 20-year-old male patient was admitted to the clinic with the following complaints: difficulty in walking, tingling sensation in the feet and weakness of 1.5 years' duration. He had undergone endoscopy and balloon dilatation surgery 2 years previously.A 20-year-old male patient was admitted to the clinic with the following complaints: difficulty in walking, tingling sensation in the feet and weakness of 1.5 years' duration. He had undergone endoscopy and balloon dilatation surgery 2 years previously.

Results: - We performed whole exome analysis on the patient and detected the c464G>A p.(Arg155His) variant in the AAAS gene in homozygous form. It was interpreted as 'pathogenic' according to the ACMG 2015 criteria: homozygous pathogenic variants in this gene correspond to the phenotype 'AchalasiaAddisonism-Alacrimia' (OMIM:231550).

Conclusion: We present this case to draw attention to the fact that patients may present with late-onset neurological findings without the classic Allgrove syndrome triadWe present this case to draw attention to the fact that patients may present with late-onset neurological findings without the classic Allgrove syndrome triad.