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

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2025-01-20 DOI:10.1016/j.pediatrneurol.2025.01.012

Linda Nguyen MD, PhD, Isabella Strozzi MD, Sheetal Hegde MD, Benjamin M. Greenberg MD, MHS

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引用次数: 0

Abstract

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.

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来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.