Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy Associated With Rhabdomyolysis: A Case Report.

BACKGROUND

Glial fibrillary acid protein (GFAP) astrocytopathy is an autoimmune central nervous system disorder that rarely affects children. We describe a case of GFAP astrocytopathy with associated rhabdomyolysis in a pediatric patient.

METHODS

We report a case report from a tertiary care university hospital.

RESULTS

An 11-year-old girl developed subacute progressive neurological symptoms, beginning with vision changes and later followed by gait instability and lower extremity weakness over 2 months. On the day of presentation, she experienced new-onset upper extremity weakness. Examination revealed severe weakness of all 4 limbs and areflexia. She also had hematuria, with markedly elevated creatine kinase level of 64,408 U/L. Magnetic resonance imaging showed T2 hyperintensity in the optic chiasm and tract, a longitudinally extensive cord lesion, and cauda equina enhancement. Cerebrospinal fluid analysis revealed pleocytosis, elevated protein, and GFAP antibodies detected by cell-based assay. An electromyogram/nerve conduction study suggested peripheral nervous system involvement. Treatment with intravenous methylprednisolone, plasmapheresis, intravenous immunoglobulin, and rituximab led to partial clinical improvement.

CONCLUSION

This case highlights a rare presentation of GFAP astrocytopathy with subacute visual loss, severe weakness, areflexia, and rhabdomyolysis. Clinicians should consider GFAP astrocytopathy in pediatric patients presenting with combined central and peripheral nervous system involvement.