Pediatric Anti-N-methyl-D-aspartate Receptor Encephalitis Mimicking Glutaric Aciduria Type 1: A Case Report
Daniel Almeida do Valle1,2,3, Mara Lúcia Schmitz Ferreira Santos1,3, Michelle Silva Zeny1,2,3
1Department of Neurology, Children's Hospital Pequeno Príncipe, Curitiba, Brazil.
Insights
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis can cause acute movement disorders and neurological regression in toddlers. Early diagnosis and immunomodulatory treatment are crucial for improved outcomes in pediatric NMDAR encephalitis.
Area of Science:
- Neurology
- Immunology
- Pediatrics
Background:
- Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a severe autoimmune disorder.
- It presents with diverse neurological symptoms, posing diagnostic challenges, particularly in young children.
Observation:
- A 15-month-old boy developed acute-onset dystonia and neuropsychomotor regression after antiemetic administration.
- Initial symptoms mimicked other conditions, including acute dystonic reaction and glutaric acidemia type 1 (GA-1).
Findings:
- Diagnosis of anti-NMDAR encephalitis was confirmed after excluding other potential causes.
- The patient showed significant improvement following immunomodulatory therapy.
Implications:
- This case highlights the critical need to consider anti-NMDAR encephalitis in the differential diagnosis of acute movement disorders in toddlers.
- Prompt diagnosis and treatment are essential for favorable prognosis in pediatric anti-NMDAR encephalitis.
Abstract:
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an immune-mediated disease that induces a wide spectrum of symptoms, especially in toddlers. These include acute-onset movement disorders, with neurological regression, and other associated neurological symptoms. Anti-NMDAR encephalitis remains a diagnostic challenge, especially in toddlers, with better prognosis associated with early treatment. We report the case of a 15-months-old boy who initially presented with vomiting and later with acute-onset dystonia after the administration of antiemetics. Within 14 days, the patient developed neuropsychomotor developmental regression and worsening dystonia. After ruling out an acute dystonic reaction and glutaric acidemia type 1 (GA-1), a final diagnosis of anti-NMDAR encephalitis was made. The patient responded well to immunomodulatory therapy. The present case underscores the importance of early treatment for patient prognosis and of including anti-NMDAR encephalitis in the differential diagnosis of acute-onset movement disorders.
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