Disclosures: Rabiah Fresco, BS: No financial relationships or conflicts of interest

Case Diagnosis: A 2-year-old female with Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.

Case Description: The patient was a previously healthy and precocious 2-year-old female, potty-trained and speaking in short sentences, who presented to the hospital with arm and leg stiffening occurring 15+ times/day with a reported 5-minute post-ictal period. Initial MRI was negative for abnormalities and routine EEG demonstrated parasagittal epileptiform discharges and she was discharged home on oxcarbazepine. At home her conditioned worsened. She regressed from speaking in short sentences to only vocalizing grunts, became incontinent to bladder and bowel, and developed lip smacking, eye fluttering, and left facial droop. On repeat admission, CSF analysis was positive for anti-NMDAR antibodies. Imaging negative for teratoma. She received IV immunoglobulin therapy, plasma exchange therapy, and IV steroids but did not show improvement until Rituximab therapy (IV and intrathecal) was initiated. She also received cycles of cyclophasamide infusions. At discharge from acute care, she was still only vocalizing grunts, crawling with apraxia, refusing to open her mouth for food, demonstrated 2-3 second attention span, and was inconsolable for hours.

Setting: Tertiary care pediatric hospital and inpatient rehabilitation

Assessment/Results: After one month of intensive inpatient therapy and six months post-diagnosis she was self-feeding with good manipulation, swallow, and clearance. Patient also had major improvement in ambulation on various indoor/outdoor surfaces. At one year after initial presentation, she can walk, run, and eat without assistance. Her main challenges are expressive communication and frequent tantrums that appear to be related to anxiety around difficultly with communication.

Discussion: This case is a rare presentation of anti-NMDAR encephalitis of unknown etiology at a young age of presentation without underlying malignancy.

Conclusion: Aggressive inpatient therapy paired with medical management proved beneficial in this patient, and is likely the best treatment for patients with anti-NMDAR encephalitis who have severe deficits and/or who don’t respond fully to medical therapy.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/a-rare-presentation-of-anti-n-methyl-d-aspartate-receptor-encephalitis-a-case-report/