Attia Bari, Nadia Sadaqat, Sana Mehreen, Muhammad Nayyab Tahir, Iqbal Bano, Uzma Jabeen.
Autoimmune Polyglandular Syndrome Type-1.
Pak Paed J Jan ;42(3):212-5.

Autoimmune Polyglandular syndrome type-1 (APS-1) also known as autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia (APECED) is a rare hereditary autosomal recessive disorder that results from immune dysregulation caused by mutation in the AIRE gene. The classic clinical features in affected individuals are: Addison's disease, hypoparathyroidism, chronic mucocutaneous candidiasis and ectodermal dysplasia. For a patient to be diagnosed as APECED at least two of these features are required and the third feature may develop as the disease progresses. We report a case of a 4-year-old boy who presented with a history of failure to thrive, seizures, altered sensorium and had these episodes from last few months. Patient was diagnosed to have Addison?s disease, hypoparathyroidism together with the manifestations of nails dystrophy and tooth enamel hypoplasia. A diagnosis of APECED was made. We did not have the facility for genetic analysis of the AIRE gene mutation. Individual disease components were managed accordingly.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com