LAUSR

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is an autoimmune condition caused by mutations in the Forkhead Box P3 (FOXP3) gene, which maps to chromosome Xp11.23 (OMIM #304790).1 It typically presents within the first year of life with watery diarrhea, eczematous dermatitis, and endocrinopathy (most commonly diabetes mellitus).1 Most children have other autoimmune phenomena including Coombs-positive anemia, thrombocytopenia, neutropenia, and tubular nephropathy.1 Bone marrow transplantation is the only definitive cure for IPEX syndrome.2 Neurologic involvement in IPEX syndrome has not been well characterized in the literature, based on a current Ovid MEDLINE search. Without aggressive immunosuppression or bone marrow transplantation, the majority of affected boys die within the first 1 to 2 years of life from metabolic derangements or sepsis.1 Diagnosis is based on clinical features and whole exome sequencing that reveals a pathogenic FOXP3 variant.1