title: A case of polyglandular autoimmune syndrome type I with unusual presentation.
abstract: Eight years old girl presented with mucocutaneous candidiasis, nail dystrophy, twitching left half of face, progressively increasing generalized skin hyperpigmentation and hypopigmented patches over both shins. Her investigations revealed low intact PTH level, low serum cortisol, high ACTH, impaired glucose tolerance test and candidal onycomycosis. She was diagnosed as Polyglandular Autoimmune Syndrome (PGA) type I. She also developed idiopathic generalized epileptiform seizures and Alcaligenes faecalis septicemia not previously reported with PGA type I. The patient responded well to alphacalcidol, hydrocortisone, valproate sodium, topical antifungal and systemic antibiotics.
authors.affiliation: Department of Paediatric Medicine, The Children's Hospital and Institute of Child Health, Lahore. qureshiahmad@yahoo.com
authors.forename: Ahmad Usaid
authors.initials: AU
authors.lastname: Qureshi
authors.forename: Rabia
authors.initials: R
authors.lastname: Abbas
authors.forename: Tahir Masood
authors.initials: TM
authors.lastname: Ahmad
mesh_terms: D042481:Alcaligenes faecalis / Q000302:isolation & purification; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D000927:Anticonvulsants / Q000627:therapeutic use; D000935:Antifungal Agents / Q000627:therapeutic use; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D002178:Candidiasis, Chronic Mucocutaneous / Q000175:diagnosis / Q000188:drug therapy; D002648:Child; D004359:Drug Therapy, Combination; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D017495:Hyperpigmentation / Q000175:diagnosis / Q000188:drug therapy; D009260:Nail Diseases / Q000175:diagnosis / Q000188:drug therapy; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000188:drug therapy*; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy; D018805:Sepsis / Q000175:diagnosis / Q000188:drug therapy / Q000382:microbiology; D013577:Syndrome; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000900:Anti-Bacterial Agents; D000893:Anti-Inflammatory Agents; D000927:Anticonvulsants; D000935:Antifungal Agents; D050071:Bone Density Conservation Agents; D006887:Hydroxycholecalciferols; D014635:Valproic Acid; C008088:alfacalcidol; D006854:Hydrocortisone