ESPE Abstracts

Introduction: Autoimmune polyendocrinopathy type 1, or APECED syndrome (Autoimmune Polyendocrinopathy Candidiasis EctodermalDystrophy), is a genetic disease with a juvenile onset, associating chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency of autoimmune origin. It is a rare disease, more common in certain populations due to inbreeding or a founder effect such as in Finland where its prevalence has been estimated at 1/25,000.

Case Report: We report the case of a 9-year-old child from a consanguineous marriage referred at the age of 2 for treatment of severe dehydration which required treatment in an intensive care unit, the clinical examination objectified a thrush and onychodystrophy and a bilateral cataract, the assessment revealed a salt loss syndrome and hypocalcemia, the exploration was completed by a hormonal assessment which returned in favor of adrenal insufficiency and hypoparathyroidism. In front of this association the diagnosis of APECED syndrome was retained, treated with glucocorticoids; Alfacalcidol; calicium syrups and fluconazol, during the evolution of his disease the patient presented at the age of 8 years a diabetic ketosis put under insulin and a bilateral keratitis.

Comment: APECED syndrome is a rare disease, of autosomal recessive transmission, linked to a mutation of the AIRE gene, located in 21q22.3. This gene codes for the AIRE 1 protein, a transcription factor, which plays a role in central thymic self-tolerance and in the periphery in the regulation of T lymphocyte activation by dendritic cells. The diagnosis of APECED syndrome was not confirmed in the case described by the mutation of the AIRE gene but in the face of clinical signs suggestive of the syndrome, in particular chronic mucocutaneous candidiasis and polyendocrinopathy associated with keratitis.

Conclusion: APECED syndrome is a rare and difficult to diagnose condition due to its very polymorphic nature. Its clinical expression must be known to allow early detection and treatment of its various components, some of which are likely to be life-threatening.