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Autoimmune polyendocrine syndrome type 1 (APS-1): more than chronic mucocutaneous (CMC) dystrophy, hypoparathyroidism (HP) and adrenal insufficiency (AAD)

Author:

Nasir A. M. Al Jurayyan, Amer O. Al Ali, Osamah A. Al Ayed, Sharifa D. A. Al Issa and Abdullah N. Al Jurayyan

Subject Area:

Health Sciences

Abstract:

We report an eight year-old Saudi girl who was diagnosed to have chronic-mucocutaneous-candidiasis (CMC), and hypoparathyroidism (HP) i.e. autoimmune polyendocrine syndrome type 1 (APS-1). She was shortly manifested symptoms and signs of autoimmune adrenal insufficiency (AAD). During the course of follow-up, and within a short period of time she developed hypothyroidism with positive anti-thyroid antibodies, type 1 diabetes mellitus with elevated glutamic acid decarboxylase 65 (GAD 65), celiac disease, small bowel biopsy proved, pernicious anemia, kerato-conjunctivitis. She died at the age of 14, with acute hepatic failure, due to an autoimmune hepatitis, and over-wheeling sepsis. The spectrum of APS-1 was highlighted.

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