Intracranial Calcifications in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: A Case Report and Literature Review

摘要

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED [MIM 240300]), also known as autoimmune polyglandular syndrome type I (APS I), is a rare, debilitating autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. The clinical spectrum of the disease is variable and includes several autoimmune endocrine and non-endocrine manifestations, which may lead to acute metabolic alterations and eventually life-threatening events.