Recurrent Oral Thrush

Abstract

Autoimmune polyendocrinopathy syndrome type 1 (APS-1) is characterized by the presence of at least two out of three clinical features, which include chronic mucocutaneous candidiasis (CMC), Addison's disease and hypoparathyroidism. The authors' present an one and a half year old girl with recurrent oral thrush who presented with generalised afebrile seizure. Evaluation revealed severe hypocalcemia with low parathormone and normal vitamin D level consistent with hypoparathyroidism. In view of the oral candidiasis and hypoparathyroidism, a clinical possibility of autoimmune polyglandular syndrome (type 1) was strongly considered. Her mother, on subsequent pregnancy was subjected to gene analysis of the fetus (chorionic villus sampling) and also for this child (index case). Both the fetus and index child were confirmed to have the AIRE gene mutation of APS1. After detailed counseling the parents opted for medical termination of the pregnancy. In children who present with recurrent oral thrush we need to consider but also look beyond immunodeficiency.

New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

“…Oral candidiasis must be recognized in relationship with APS-related adrenal insufficiency, especially in the pediatric population, since the syndrome onset typically occurs during childhood with a progressive risk of multiple organ involvement [ 54 , 61 ]. One particular clue before the actual endocrine diagnosis might be recurrent oral thrush [ 62 ]. Atypical presentations with adult onset of APS-related mucocutaneous candidiasis are reported; this rare syndrome represents a challenge in the adult population as well [ 63 , 64 , 65 ].…”