P 1079. Early Diagnosis of Neuromyelitis Optica Spectrum Disease as a Prerequisite for Optimal Therapy Management—Report of a Case

Background: Neuromyelitis optica (NMO) is defined by optic neuritis and longitudinal extensive transverse myelitis (LETM) spanning at least three segments of the spinal cord. Antibodies directed against aquaporin 4 or myelin oligodendrocyte glycoprotein (MOG) can be detected in the majority of children and adults.

However, especially in children and adolescents, clinical presentation can be atypical and antibodies are often not present.

Case Report: We saw a 13-year-old boy, who presented to the emergency department with acute urinary retention and paraparesis of the lower limbs. This episode was preceded by an upper respiratory tract infection. Magnetic resonance imaging (MRI) of the spinal cord showed LETM starting at the level of the third thoracic vertebra to the conus. H-sign was positive. Lumbar puncture was performed and cerebrospinal fluid showed pleocytosis, moderately elevated protein, and no oligoclonal bands. Antibodies to aquaporin-4 and MOG were negative.

The patient received intravenous steroids and immunoglobulins for 5 days. The neurological deficits temporarily improved. Less than 30 days after the first episode, the patient showed a relapse with sensory deficits of the upper chest, dysarthria, and paraparesis of the upper limbs.

The patient was referred to our hospital for further therapy. We diagnosed NMO spectrum disease (NMOSD). On the repeated MRI scan, the initial inflammatory lesions were decreased, but new inflammatory lesions were spreading from the level of the third thoracic vertebra to the brain stem. We repeated the intravenous cortisone treatment for 5 days with 2 g followed by an oral steroid taper, administered six cycles of immune adsorption, and started rituximab treatment.

His symptoms improved gradually. The last persisting symptom is urinary retention requiring catheterization once a day.

Conclusion: We present the case of a teenager with NMOSD. Early diagnosis by radiologic and clinical criteria despite negative antibodies to aquaporin 4 and MOG is crucial for acute and long-term therapy planning to avoid disabling neurological sequelae and prevent relapses.