ESPE Abstracts (2018) 89 P-P3-267

Unusual Clinical Presentation of Autoimmune Polyendocrinopathy Type 1

Federico Baronioa, Rita Ortolanoa, Simona Ferrarib, Alessandra Cassioa, Giulio Maltonia, Giacomo Tontia & Antonio Balsamoa


aS.Orsola-Malpighi University Hospital, Pediatric Endocrinology Unit, Endo-ERN (Carendo BO), Bologna, Italy; bS.Orsola-Malpighi University Hospital, Medical Genetic Unit, Endo-ERN (Carendo BO), Bologna, Italy


Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and Addison’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalence.

Case presentation: We report on a boy affected by APS-1 who presented with cutaneous vasculitis followed by psychomotor delay interpreted as autism spectrum disorder when he was 10 and 26 months old, respectively. He was referred to our clinic for the first time at 3.1 years of age, for hypocalcemic seizures. The autoantibody profile (OS and NOS) performed at that time was negative as it was Catch 22 analysis and array CGH. A congenital hypoparathyroidism was suspected and treatment was started with alfa1 calcidiol, Ca, Mg and Teriparatide supplementation. During subsequent follow up, anti TPO antibodies (Abs) appeared and raised progressively with anti adrenal Abs positive only once and no other Abs positivities until now. Clinical signs of gastrointestinal (episodes of recurrent diarrhea) and cutaneous autoimmune involvement (vitiligo) occurred later. No mucocutaneous candidiasis, hypothyroidism or adrenal insufficiency are clinically present until now. The AIRE gene analysis showed a compound heterozigosis with a frameshift and a potential causative missense mutations inherited from non consanguineous parents.

Conclusion: The clinical picture of APS-1 may be characterized by rare or atypical isolated or immune-mediated autoimmune manifestations, even years before the beginning of the classical components of the disease. Among these uncommon features there may be rashes of variable shape and duration, with the histological characteristics of vasculitis. At our knowledge, this is the first case with a presentation characterized by neurological alterations interpreted as autism spectrum disorders. Although it is not easy to discriminate between neurological symptoms due to a separate disease and neurological manifestations due to unrevealed hypocalcemic levels, we outline the heterogeneity of presentation of APS-1 and the need to think to this clinical entity, even when very unusual symptoms are present. After the substitutive treatment the patient did not repeat hypocalcemic seizures and showed a significant improvement of his neuromotor and behavior development.

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