Resumen

BARRETO ESPINOZA, Lorena Esperanza; ROJAS LAREZ, Ronald Antonio; SANCHEZ MAGO, Jairo Alexander  y  MACUARISMA LEZAMA, Pedro. Autoimmune polyendocrinopathy type I, case presentation and review of the literature. Arch Venez Puer Ped [online]. 2014, vol.77, n.3, pp.133-135. ISSN 0004-0649.

Autoimmune polyendocrinopathy syndrome type I, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator gene. Clinical diagnosis requires the presence of at least two of the three main components: chronic mucocutaneous candidiasis, hypoparathyroidism, and/or Addison's disease, or only one if a sibling has already been diagnosed. Case report: We report the case of a 12 year old girl with muscle spasms, myalgia, paresthesia without apparent triggering conditions. Short stature with normal weight, nail dystrophy and dental enamel hypoplasia. Endocrinological evaluation showed hypocalcemia, hyperphosphatemia, low PTH levels, and high TSH with normal T4. Candida albicans was isolated in nail scrapings and vaginal discharge. These findings lead to the diagnosis of APECED. Conclusion: In patients with any of the main criteria for APECED diagnosis should be considered. Despite being a rare disease, early diagnosis and treatment is important in order to avoid significant morbidity and mortality.

Palabras clave : autoimmune polyendocrinopathy; hypoparathyroidism; candidiasis; ectodermal dystrophy; Addison's disease.

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