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Abstract Details

Anti-NMDAR encephalitis mimicking rapidly progressive neurodegenerative disorder in a toddler: a case report
Autoimmune Neurology
P5 - Poster Session 5 (11:45 AM-12:45 PM)
Anti-NMDAR encephalitis is one of the most common causes of encephalitis in children. However, variations in clinical presentation and a multiphasic course often leads to delays in diagnosis. Herein we describe a toddler who presented with developmental regression and abnormal EEG suggestive of a genetic neurodegenerative disorder but was found to be highly positive for anti-NMDAR antibody and responded positively to immunotherapy. 
To report that anti-NMDAR encephalitis in children can present with developmental regression and seizures mimicking a rapidly progressive neurodegenerative disorder. 
Retrospective chart review.

An 18-month-old female with a history of eczema and unvaccinated status presented with a 1-week history of developmental regression that profoundly advanced during admission to include depressed level of consciousness, generalized hypotonia, loss of purposeful movements, choreiform and dystonic movements, tonic seizures, and infantile spasms. MRI brain and spine and cerebral spinal fluid indices were normal. EEG initially showed several brief tonic seizures, abundant epileptiform discharges and photoparoxysmal response at low frequencies that raised concern for possible lysosomal storage disease.

She was started on Keppra with resolution of her seizures. Repeat EEG on day 18 of hospitalization however showed worsening pattern with modified hypsarrhythmia and she was initiated on high-dose oral prednisolone for infantile spasms. She underwent extensive neurometabolic and genetic workup which were largely unremarkable. Anti-NMDAR antibody returned positive on day 32 of hospitalization. She was initiated on methylprednisolone and plasma exchange, followed by intravenous immunoglobulin, with dramatic improvement. She was discharged on day 68 of hospitalization, with plan to continue intravenous immunoglobulin monthly.

Our case emphasizes the significance of suspecting anti-NMDAR encephalitis as a cause of progressive neurological deterioration in young children.

Linda Nguyen, MD, PhD (UCSD/Rady Childrens Child Neurology)
Dr. Nguyen has nothing to disclose.
Marie Varnet, MD (UTSW) Dr. Varnet has nothing to disclose.
Cynthia X. Wang, MD (Children's Dallas Neurology) Dr. Wang has nothing to disclose.