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A Simple Cell-based Immunofluorescence Assay to Detect Autoantibody Against the N-Methyl-D-Aspartate (NMDA) Receptor in Blood
Published on: January 9, 2018
Anti-N-methyl D-aspartate receptor encephalitis in childhood
Felippe Borlot1, Mara Lucia F Santos, Marcia Bandeira
1Hospital Santa Marcelina, São Paulo, Brazil. felippe@dfvneuro.com.br
Insights
Pediatricians should consider anti-N-methyl-D-aspartate receptor (NMDAr) encephalitis in children presenting with neuropsychiatric and movement disorders. Early diagnosis and immunosuppression can lead to significant neurological recovery.
Area of Science:
- Neurology
- Immunology
- Pediatrics
Background:
- Encephalitis diagnosis often focuses on infectious causes.
- Anti-N-methyl-D-aspartate receptor (NMDAr) encephalitis is a treatable autoimmune condition.
- Recognizing NMDAr encephalitis in children is crucial for timely intervention.
Observation:
- Three pediatric patients exhibited initial neuropsychiatric symptoms (personality change, anxiety, confusion, speech regression) followed by encephalopathy and movement disorders (choreoathetoid/dystonic).
- NMDAr antibodies were detected in serum and cerebrospinal fluid after excluding infectious etiologies.
- Neoplasm screening was negative in these pediatric cases.
Findings:
- Clinical presentation of anti-NMDAr encephalitis in children mirrors adult cases.
- Immunosuppressive therapy resulted in full neurological recovery for two patients.
- One patient experienced residual mild dystonic posture.
Implications:
- Anti-NMDAr encephalitis should be considered in the differential diagnosis of pediatric encephalitis.
- Pediatricians must be aware of this treatable autoimmune disorder.
- Prompt diagnosis and treatment can improve neurological outcomes in children with NMDAr encephalitis.
Objective:
To discuss the differential diagnosis of encephalitis beyond that of infectious etiology and to inform pediatricians about the possibility of anti-N-methyl-D-aspartate receptor (NMDAr) encephalitis in children by highlighting its most important clinical features.
Description:
Three patients presented with an initial neuropsychiatric syndrome followed by encephalopathy and movement disorder. The initial neuropsychiatric features which developed over days to weeks included a change in personality, anxiety, confusion, and speech regression. This was followed by a choreoathetoid or dystonic movement disorder affecting the orofacial region and the limbs. After the exclusion of the major causes of encephalitis, NMDAr antibodies were identified in serum and cerebrospinal fluid, and neoplasm screening did not detect any tumor. Patients were submitted to immunosuppression, and two of them had a full neurological recovery. One of them still presents a mild dystonic posture in a limb.
Comments:
Clinical signs of anti-NMDAr encephalitis in children are similar to those previously described in adults. Tumors are not usually detected by this age. The diagnosis of anti-NMDAr encephalitis must be addressed only after the exclusion of infectious and other recognizable causes of encephalitis. Pediatricians should be aware of this treatable autoimmune condition.
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