Recurrent Autoimmune Encephalitis in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Jason T Stemple; Kamal Abulebda; Grace F Ryan; Nadine G Haddad; Alden F Dewey; Jennah C Foltz; Laurence E Walsh; Riad Lutfi

doi:10.1155/crcc/6086023

Recurrent Autoimmune Encephalitis in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Case Rep Crit Care. 2026 May 18:2026:6086023. doi: 10.1155/crcc/6086023. eCollection 2026.

Authors

Jason T Stemple¹, Kamal Abulebda¹, Grace F Ryan¹, Nadine G Haddad², Alden F Dewey², Jennah C Foltz³, Laurence E Walsh⁴, Riad Lutfi¹

Affiliations

¹ Division of Pediatric Critical Care, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA, indiana.edu.
² Division of Pediatric Endocrinology and Diabetes, Indiana University School of Medicine/Riley Hospital for Children, Indianapolis, Indiana, USA.
³ Division of Medical & Molecular Genetics Riley Children's Health, Indiana University, Indianapolis, Indiana, USA, indiana.edu.
⁴ Department of Neurology, Genetics, and Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA, indiana.edu.

Abstract

Autoimmune polyendocrine syndrome Type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS-1/APECED), is a rare monogenic autoimmune disorder with increasing recognition of neurologic manifestations. We report a critically ill adolescent female with APS-1 and a prior history of autoimmune encephalitis who presented with acute encephalopathy and seizures. Electroencephalography demonstrated focal seizures superimposed on ictal-interictal continuum activity, and brain MRI revealed cytotoxic lesions of the corpus callosum. High-titer glutamic acid Decarboxylase 65 (GAD65) antibodies supported a relapse of autoimmune encephalitis after other potential etiologies were excluded. The patient demonstrated marked clinical improvement following aggressive immunotherapy, including plasma exchange, high-dose corticosteroids, and rituximab. This case highlights the diagnostic and management challenges of autoimmune encephalitis in patients with APS-1, and to our knowledge, represents the first reported case of recurrent autoimmune encephalitis in this population with a favorable response to early immunomodulatory therapy.