Neurologic presentation of triple A syndrome.

Abstract

"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy. Molecular analysis revealed compound heterozygous mutations in the AAAS gene, confirming the clinical diagnosis. The clinical presentation of patients with triple A syndrome is variable. Our patient manifested neurologic problems during early childhood, before other features of this condition were apparent. We highlight the neurologic presentation of this multisystem disorder. In the presence of complex axonal neuropathy, other features of this condition should be sought.

• Authors: Abhijit Dixit, Gabriel Chow, Ajoy Sarkar
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 45 Issue 5 Pg. 347-9 (Nov 2011) ISSN: 1873-5150 [Electronic] United States
• PMID: 22000320 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Elsevier Inc. All rights reserved.

Topics

• Adrenal Insufficiency (complications, diagnosis)
• Child
• Esophageal Achalasia (complications, diagnosis)
• Humans
• Male
• Nervous System Diseases (complications, diagnosis)
• Neurologic Examination (methods)
• Syndrome