Seronegative Autoimmune Basal Ganglia Encephalitis Presenting with Oculogyric Dystonia and Parkinsonism in a Pediatric Patient
Alexis Navarro1, Jonathan Yarimi2, Monica Arroyo3
1Florida International University Herbert Wertheim College of Medicine, 2Memorial Healthcare, 3Joe Di Maggio Children's Hospital
Background:
Basal ganglia encephalitis represents a rare subset of autoimmune encephalitis that frequently presents with movement disorders, including dystonia and parkinsonism, and antibodies that target dopamine-2 receptors (D2R). Pediatric cases require a high index of suspicion, particularly when neuroimaging is normal or antibody testing is unavailable. While identifying anti-D2R antibodies is standard, many pediatric patients meet clinical diagnostic criteria despite a normal MRI or the absence of identifiable antibodies.
Design/Methods:
A 9-year-old girl with a history of autoimmune pancreatitis presented with new-onset neurological symptoms, including encephalopathy, right-sided hemiplegia, oculogyric dystonia, and parkinsonism (masked facies, rigidity, and hypophonia). A 16-hour video EEG was abnormal with an asymmetric and disorganized background. Brain MRI was unremarkable and pelvic ultrasound was normal. Serum infectious and inflammatory testing was unremarkable. Cerebrospinal fluid analysis revealed pleocytosis and elevated protein with negative culture and meningitis/encephalitis panel. Pediatric autoimmune encephalopathy serum and CSF (serum and CSF Mayo) were negative but the anti-D2R antibody was not included on the panel, as it was not available from conventional laboratories. The autoinflammatory and autoimmunity syndromes genetic panel (Invitae) was unremarkable. The CSF and clinical presentation were suggestive of autoimmune basal ganglia encephalitis. The patient was treated with simultaneous pulse steroids and alternating days of PLEX and IVIG. Following this treatment, she made a complete recovery.
Conclusions:
This case highlights the importance of maintaining a high index of suspicion for autoimmune encephalitis in pediatric patients presenting with movement disorders and encephalopathy, even in the setting of normal neuroimaging and absent antibody confirmation. In this case, clinical presentation, EEG and CSF were suggestive of autoimmune basal ganglia encephalitis. Early recognition and prompt immunotherapy support favorable outcomes.
Generative AI Usage
No, did not use generative AI in the drafting or editing in this abstract.
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