Abstract
Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARE) is the most common cause of autoimmune encephalitis in children with a wide spectrum of clinical presentation and MRI findings. A high index of suspicion is required to avoid a delay in treatment and long-term morbidity. We present a healthy two-year-old male who developed fever and viral prodrome symptoms that rapidly progressed to acute encephalopathy, status epilepticus, quadriparesis, and abnormal movements. Brain MRI showed symmetric involvement of bilateral insula, posterior part of basal ganglia, and thalami. The patient survived the acute phase with supportive therapy but ended up with a devastating neurologic sequela, including developmental delay, inability to communicate, dysphagia, quadriparesis, and cortical visual impairment. Anti-N-methyl-D-aspartate (anti-NMDA) immunoglobulin G (IgG) antibodies were negative in serum and cerebrospinal fluid (CSF). The patient underwent an extensive inflammatory, infectious, metabolic, and genetic workup, including a whole-exome sequence (WES) and mitochondrial panel, which was unremarkable. CSF studies were unremarkable. Repeated anti-NMDA IgG antibodies were positive in serum a year after the presentation. This presentation highlights the crucial role of early immunotherapy in suspected autoimmune encephalitis (AE) cases, even at a young age, to prevent devastating neurologic outcomes. Moreover, clinicians should not rely on antibody results to treat a suspected case of AE due to possible false-negative test results, and the majority of AE cases remain without known antibodies.