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.
This is a preview of subscription content, log in via an institution to check access.
Abbreviations
- APS:
-
Autoimmune polyendocrinopathy syndrome
- AIRE:
-
Autoimmune regulator
- CMC:
-
Chronic mucocutaneous candidiasis
References
Kekäläinen E, Tuovinen H, Joensuu J, Gylling M, Franssila R, Pöntynen N, et al. A defect of regulatory T cells in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Immunol. 2007;178:1208–15.
Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N, et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med. 2008;358:1018–28.
Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K, Uibo R, et al. Identification by molecular cloning of an autoantigen associated with Addison’s disease as steroid 17α-hydroxylase. Lancet. 1992;339:770–3.
Neufeld M, Maclaren NK, Blizzard RM. Two types of autoimmune Addison’s disease associated with different polyglandular autoimmune (PGA) syndromes. Med (Baltimore). 1981;60:355–62.
Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990;322:1829–36.
Pearce SHS, Cheetham TD. Autoimmune polyendocrinopathy syndrome type 1: Treat with kid gloves. Clin Endocrinol (Oxf). 2001;54:433–5.
Betterle C, Greggio NA, Volpato M. Clinical review 93: Autoimmune polyglandular syndrome type I. J Clin Endocrinol Metab. 1998;83:1049–55.
Peterson P, Perheentupa J, Krohn KJ. Detection of candidal antigens in autoimmune polyglandular syndrome type I. Clin Diagn Lab Immunol. 1996;3:290–4.
Aaltonen J, Björses P, Sandkuijl L, Perheentupa J, Peltonen L. An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet. 1994;8:83–7.
Kumar PG, Laloraya M, She J-X. Population genetics and functions of the autoimmune regulator (AIRE). Endocrinol Metab Clin North Am. 2002;31:321–38.
Acknowledgments
The authors acknowledge and thank immensely the support of MEDISCANS—Fetal Care Research Foundation, Chennai and the Genetics department of SGPGI, Lucknow for their help in sampling and genetic analysis of the patient respectively.
Conflict of Interest
None.
Role of Funding Source
None.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sivabalan, S., Mahadevan, S. & Srinath, M.V. Recurrent Oral Thrush. Indian J Pediatr 81, 394–396 (2014). https://doi.org/10.1007/s12098-013-1201-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12098-013-1201-x