Neuromyelitis optica spectrum disorder presenting as rhomboencephalitis

Area of Science:

• Neurology
• Immunology
• Neuroinflammation

Background:

• Rhomboencephalitis is a severe neurological syndrome with potentially life-threatening consequences.
• Prompt diagnosis and treatment initiation are critical for favorable patient outcomes.
• Diverse underlying pathologies can manifest as rhomboencephalitis.

Observation:

• A 22-year-old woman presented with progressive gait difficulties, upper limb incoordination, dysarthria, and hypersomnia.
• Initial broad-spectrum infectious workup and treatment yielded no clinical improvement.
• Plasma exchange led to rapid symptomatic improvement, suggesting a non-infectious inflammatory etiology.

Findings:

• Autoimmune screening confirmed aquaporin-4 positive neuromyelitis optica spectrum disorder (NMOSD) as the underlying cause.
• Immunotherapy with rituximab was initiated, and the patient remained relapse-free.
• This case underscores the importance of considering NMOSD in refractory rhomboencephalitis.

Implications:

• Early aquaporin-4 antibody testing is recommended for patients with rhomboencephalitis unresponsive to standard treatments.
• Timely diagnosis and intervention in NMOSD can significantly reduce morbidity and mortality.
• Refined diagnostic criteria for NMOSD continue to evolve, necessitating a high index of suspicion.