Abstract Details

Title Progressive Neurodegenerative Syndrome in a Patient with X-linked Agammaglobulinemia

Topic Autoimmune Neurology

Presentation(s) P3 - Poster Session 3 (12:00 PM-1:00 PM)

Poster/Presentation
Number 093

Objective N/A

Background X-linked agammaglobulinemia is a primary immunodeficiency disorder affecting B-cell maturation, causing low or undetectable levels of circulating antibodies, and predisposing patients to severe and recurring infections with encapsulated bacteria and bloodborne viruses. A rare, usually fatal, neurological complication can manifest as a neurodegenerative syndrome with progressive loss of motor and cognitive skills. Although usually attributed to Chronic Enteroviral Meningoencephalitis, cases without a clear infectious etiology have also been reported, posing a diagnostic challenge.

Design/Methods N/A

Results An 18-year-old male with history of X-linked agammaglobulinemia, and previously independent of all activities of daily living, was presented for a two-year history of progressively worsening slurred speech with associated tremors, impaired coordination and gait imbalance. Neurological exam was significant for global deficits in cognitive domains as per Montreal Cognitive Assessment (13/30), dysarthric and dysfluent speech, spastic upper and lower extremities, dysdiadochokinesia, dysmetria and impaired tandem gait; cranial nerves, strength, deep tendon reflexes and sensation were intact. Brain MRI demonstrated mild diffuse parenchymal atrophy; spinal cord MRI was reported normal. Routine EEG was reported normal. Lumbar puncture had normal opening pressure; CSF analysis was unremarkable. PCR for Enterovirus in CSF was negative as well as for other viruses. Paraneoplastic, metabolic and nutritional evaluations were reported normal. Baclofen was started for his spasticity and Carbidopa-Levodopa trial was provided for patient's tremors. Patient was also started on IVIg therapy, but no significant response to any treatment modalities was achieved. Over the next 10 months, patient's tremors, gait instability and speech continued to deteriorate resulting in bedbound status.

Conclusions Few case reports documenting survival highlight the importance of early diagnosis and aggressive immunotherapy. Progressive neurodegenerative syndrome in X-linked agammaglobulinemia is a challenging diagnosis burdened with diagnostic delays, uncertain etiological mechanism and no significantly effective treatment options.

Authors/Disclosures
Lionel D. Vazquez-Figueroa, MD (Pediatric University Hospital) PRESENTER	Dr. Vazquez-Figueroa has nothing to disclose.
Yashira M. Torres-Ramirez, MD (Hospital Pediatrico Universitario)	Dr. Torres-Ramirez has nothing to disclose.

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