To report that autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy can be associated with rhabdomyolysis in a pediatric patient.

GFAP astrocytopathy is a rare autoimmune neuroinflammatory disorder that can affect the central nervous system. Patients typically present with subacute meningoencephalitis but can also manifest with myelopathy, visual dysfunction, ataxia, and/or autonomic dysfunction. Rarely, peripheral nervous system involvement is also encountered. Children only account for up to 10-30% of patients. Herein we describe a child who presented with subacute vision loss, weakness and areflexia with rhabdomyolysis and was subsequently found to be positive for GFAP in the CSF and responded to immunotherapy.

Retrospective chart review. 

An 11-year-old female presented with subacute progressive neurological symptoms including vision changes followed by gait instability and lower extremity weakness two months later. On the day of presentation, she had developed upper extremity weakness and an episode of incontinence with bright red urine. On admission, she had ophthalmoparesis, severe weakness of all four limbs and areflexia. Creatine kinase was significantly elevated, peaking at 64,408 units/L. She also had elevated aspartate aminotransferase, alanine aminotransferase and troponin, peaking at 4078 units/L, 528 units/L and 962 pg/mL, respectively. MRI brain showed T2 hyperintensity in the optic chiasms and tract. MRI spine showed a longitudinal extensive cord lesion and cauda equina enhancement. CSF analysis showed mild pleocytosis (13 cells/mm3), elevated protein (217 mg/dL) and positive GFAP by cell-based assay (titer 1:32). Serum myelin oligodendrocyte glycoprotein and aquaporin-4 antibodies were negative. Electromyography and nerve conduction study showed active axonal motor greater than sensory neuropathy with early evidence of reinnervation. Clinical condition improved with intravenous methylprednisolone, plasmapheresis, intravenous immunoglobulin, and rituximab.

This case illustrates a unique manifestation of GFAP astrocytopathy including subacute visual loss followed with severe weakness, areflexia and rhabdomyolysis.