Glycine receptor antibody-associated epilepsy in a boy aged 4 years

Area of Science:

• Neurology
• Immunology
• Pediatrics

Background:

• Autoimmune encephalitis is a group of rare neurological disorders characterized by inflammation of the brain due to an autoimmune response.
• Glycine receptor antibodies are a specific type of neuronal autoantibody implicated in certain forms of encephalitis.

Observation:

• A previously healthy boy presented with explosive-onset seizures and encephalopathy, initially presumed to be infectious.
• Despite broad-spectrum antibiotics and multiple antiepileptic drugs (AEDs), the patient's condition worsened with persistent seizures, encephalopathy, and new-onset ataxia.
• Electroencephalogram (EEG) initially showed normal activity but later revealed atypical delta-brush-like waves, suggestive of specific neurological dysfunction.

Findings:

• The patient tested positive for glycine receptor antibodies in serum and cerebrospinal fluid, confirming an autoimmune etiology.
• Treatment with immune-modulatory therapy, including intravenous methylprednisolone and intravenous immunoglobulin, alongside AEDs, achieved seizure control.
• The patient's ataxia also showed improvement following immunotherapy.

Implications:

• This case underscores the importance of considering autoimmune encephalitis in pediatric patients presenting with refractory seizures and encephalopathy.
• Diagnosis of glycine receptor antibody encephalitis requires specific autoantibody testing.
• Early recognition and initiation of immunotherapy are crucial for favorable outcomes in autoimmune encephalitis.