A decade of diagnostic uncertainty: from neurodevelopmental disorders to the discovery of autoimmune encephalitis

Abstract

This case report describes an early adolescent girl who began experiencing recurrent paroxysmal events, behavioural changes and involuntary body movements from toddler age, shortly after a febrile illness. Prolonged seizures and developmental regression followed the febrile episode. Although she regained most of her milestones, she continued to have seizures over the years and developed stereotypic hand movements, emotional instability and hyperactivity. Despite extensive investigations, a definitive diagnosis remained elusive. She was initially diagnosed with intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder and seizure disorder. However, re-evaluation in early adolescence confirmed the presence of intrathecal N-methyl-D-aspartate receptor antibodies and type 2 oligoclonal bands, thereby establishing the diagnosis. The patient was treated with a combination of immunotherapies, including methylprednisolone, rituximab and intravenous immunoglobulin, with partial clinical improvement observed over 4 months of follow-up. This case highlights the importance of reconsidering the diagnosis in children presenting with unexplained neuropsychiatric symptoms and seizures.

Keywords: Autoimmunity; Epilepsy and seizures; Immunology; Magnetic Resonance Imaging; Movement disorders (other than Parkinsons).