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

Vykuntaraju K Gowda1, Archana Varghese2, Maria P Varghese3

  • 1Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India drknvraju08@gmail.com.

BMJ Case Reports
|September 15, 2025
PubMed

Insights

A child with unexplained neuropsychiatric symptoms and seizures was diagnosed with anti-N-methyl-D-aspartate receptor encephalitis after extensive investigations. Immunotherapy led to partial clinical improvement, underscoring the need for re-evaluation in complex pediatric cases.

Area of Science:

  • Pediatric Neurology
  • Neuroimmunology
  • Developmental Neuroscience

Background:

  • Recurrent paroxysmal events, behavioral changes, and involuntary movements in early childhood can present diagnostic challenges.
  • A history of febrile illness followed by prolonged seizures and developmental regression can precede complex neuropsychiatric conditions.
  • Previous diagnoses included intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, and seizure disorder, but remained inconclusive.

Purpose of the Study:

  • To present a case report of an early adolescent girl with a complex, long-standing neuropsychiatric and epilepsy presentation.
  • To highlight the diagnostic process and eventual identification of anti-N-methyl-D-aspartate receptor encephalitis.
  • To emphasize the importance of reconsidering diagnoses in pediatric patients with unexplained neurological and behavioral symptoms.

Main Methods:

  • Detailed clinical history collection and neurological examination.
  • Extensive investigations including neuroimaging and laboratory tests.
  • Re-evaluation in early adolescence leading to detection of intrathecal N-methyl-D-aspartate receptor antibodies and oligoclonal bands.

Main Results:

  • The patient exhibited recurrent seizures, behavioral changes, involuntary movements, and developmental regression since toddlerhood.
  • Initial extensive investigations did not yield a definitive diagnosis.
  • Confirmation of intrathecal N-methyl-D-aspartate receptor antibodies and type 2 oligoclonal bands established the diagnosis of autoimmune encephalitis.
  • Treatment with methylprednisolone, rituximab, and intravenous immunoglobulin resulted in partial clinical improvement over 4 months.

Conclusions:

  • Anti-N-methyl-D-aspartate receptor encephalitis should be considered in children with unexplained, evolving neuropsychiatric symptoms and seizures.
  • Re-evaluation and advanced immunological testing are crucial for diagnosing challenging pediatric neurological disorders.
  • Early diagnosis and immunotherapy can lead to partial recovery in patients with autoimmune encephalitis.