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Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy Associated With Rhabdomyolysis: A Case Report
Linda Nguyen1, Isabella Strozzi1, Sheetal Hegde1
1Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas.
Pediatric Neurology
|February 13, 2025
Summary
Glial fibrillary acid protein (GFAP) astrocytopathy is a rare autoimmune disorder in children. This case report details a pediatric patient with GFAP astrocytopathy presenting with severe neurological symptoms and rhabdomyolysis.
Area of Science:
- Neuroimmunology
- Pediatric Neurology
- Autoimmune Disorders
Background:
- Glial fibrillary acid protein (GFAP) astrocytopathy is an autoimmune central nervous system disorder.
- This condition rarely affects pediatric populations.
- Associated rhabdomyolysis can occur.
Purpose of the Study:
- To describe a rare case of GFAP astrocytopathy in a pediatric patient.
- To highlight the clinical presentation and diagnostic findings.
- To emphasize the importance of considering this diagnosis in children with neurological symptoms.
Main Methods:
- A case report from a tertiary care university hospital.
- Detailed clinical examination, laboratory analysis, and neuroimaging.
- Detection of GFAP antibodies using a cell-based assay.
- Electromyogram/nerve conduction study to assess peripheral nervous system involvement.
Main Results:
- An 11-year-old girl presented with subacute progressive neurological symptoms including vision changes, gait instability, and severe limb weakness.
- Elevated creatine kinase levels and hematuria indicated rhabdomyolysis.
- MRI revealed characteristic central nervous system lesions.
- Cerebrospinal fluid analysis confirmed GFAP antibodies, pleocytosis, and elevated protein.
Conclusions:
- GFAP astrocytopathy can present with subacute visual loss, severe weakness, areflexia, and rhabdomyolysis in children.
- This case underscores the potential for combined central and peripheral nervous system involvement.
- Clinicians should consider GFAP astrocytopathy in the differential diagnosis for pediatric patients with these symptoms.
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