Triple A syndrome: a case report

Abstract

Triple A syndrome is a rare autosomal recessive disorder characterised by alacrimia, achalasia and adrenal failure. It was first reported by Allgrove in 1978 and 100 cases have been reported worldwide. This case report concerns a 24-year-old woman who was referred for evaluation of dysphagia and was finally diagnosed as such a case. A high degree of suspicion enables all the components of this syndrome to be searched for, as early diagnosis can reduce the morbidity and mortality.

Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report

“…Achalasia cardia is one of the motility disorders of the esophagus that is characterized by defective relaxation of the gastro-esophageal sphincter and absence of peristalsis within the body of the esophagus due to fibrosis and degeneration of the inhibitory myenteric plexus. Achalasia is not that common in children [2,9]. However, it occurs in up to 75% of AS cases, and patients usually present with progressive dysphagia, failure to thrive or weight loss, and repeated aspiration pneumonia [2,5].…”

“…Progressive neurological impairment constitutes another important component of this syndrome with a prevalence of 60% of affected patients [9]. This usually manifests with polyneuropathy with distal distribution, autonomic dysregulation, amyotrophy, parkinsonism, ataxia, and dementia [5,9]. In comparison to other AS features, neurological involvement is considered a late phenomenon.…”