Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes

Matteo Chinello; Margherita Mauro; Gaetano Cantalupo; Rita Balter; Massimiliano De Bortoli; Virginia Vitale; Ada Zaccaron; Elisa Bonetti; Rossella Gaudino; Elena Fiorini; Simone Cesaro

doi:10.3389/fped.2019.00051

Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes

Front Pediatr. 2019 Feb 26:7:51. doi: 10.3389/fped.2019.00051. eCollection 2019.

Affiliations

¹ Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
² Mother and Child Department, University of Verona, Verona, Italy.
³ Child Neuropsychiatry, University of Verona, Verona, Italy.
⁴ Pediatric Division, Department of Pediatrics, University Hospital of Verona, Verona, Italy.

Abstract

The polyglandular autoimmune syndrome type I is a rare hereditary autosomal recessive disease. We describe a child with the classic triad of the disease and her sister with pure red cell aplasia and cerebellar hypoplasia. The latter received two haematopoietic stem cell transplantations, complicated by an acute disseminated encephalomyelitis.

Keywords: acute disseminated encephalomyelitis (ADEM); cerebellar hypoplasia; hematopoietic stem cell transplantation (HCT); polyglandular autoimmune syndrome type I; pure red cell aplasia (PRCA).

Publication types

Case Reports