Diagnostic and therapeutic dilemmas in alacrima, achalasia, and addisonism syndrome

oleh: Laavanayaa Somasundaram, Suhas Prabhakar

Format: Article
Diterbitkan: Wolters Kluwer Medknow Publications 2021-01-01

Deskripsi

Allgrove's syndrome is a rare genetic disorder characterized by alacrima, achalasia, and addisonism (AAA syndrome). The rarity of the disease and the requirement of genetic analysis to confirm the disease cause diagnostic issues. The variable nature of presentation of the classical triad is known. Requirement of education among the clinician and parents is essential to avoid severe or fatal complications. We present a case of male child who presented with near-fatal hypoglycemia and on evaluation found to have early-onset complete manifestation of AAA syndrome. The case also highlights the need of periodical assessment, awareness among clinicians about disease, and parental education to avoid severe complications.