Abstract Details

Title Progressive Neurodegeneration in X-Linked Agammaglobulinaemia

Topic Autoimmune Neurology

Presentation(s) P1 - Poster Session 1 (5:30 PM-6:30 PM)

Poster/Presentation
Number 1-005

Objective To describe a patient X-Linked Agammaglobulinemia (XLA) with a rare form of global neurodegeneration.

Background

XLA is a rare primary immunodeficiency which leads to early death from infection if not treated with exogenous immunoglobulin. Progressive neurodegeneration has been reported in patients with primary immunodeficiency, including XLA treated with IVIG. Brain biopsy often shows encephalitis, and infectious agents including enterovirus and astrovirus have been identified in some cases. In other chronic encephalitis in XLA no etiology is identified.

Design/Methods N/A

Results We report a case of 29-year-old male, with a XLA treated with IVIG, who presents with a 9 year decline in cognitive function. At onset parents noted mild tremor, anhedonia, poor memory. Initial exam showed poor naming and recall, and a symmetric 2-3Hz postural tremor in fingers/wrist. MRI showed mild progressing to severe global atrophy. LPs had normal OP with bland CSF and unremarkable infectious workup. EEG showed diffuse slowing. T-cells were polyclonal. He was treated with IVIG and interferon alpha2B without benefit. Neuropsychiatric testing showed marked reductions in processing speed, visual-spatial, and lesser degradation in language. His slow tremor abated but he developed mild ataxia and asymmetric high-frequency tremor with head titubation. He became spastic and hyperreflexic with clonus. After 7 years he had a combination of choreoathetoid and stereotyped movements, simultanagnosia, and oculomotor apraxia. He started crawling before becoming bed bound, and his language degraded to repetitive phrases and echolalia. Although he became incontinent and had disrupted sleep, he continued to be able to take food by mouth. While in hospice he had two GTC seizures. He continues to be treated with SCIG for his underlying XLA in hospice.

Conclusions This report demonstrates the progression of a rare global neurodegenerative disease in a patient with a primary immunodeficiency, not responsive to therapy with IVIG and interferon.

Authors/Disclosures
Timothy R. Gall, MD (Madigan Army Medical Center Neurology) PRESENTER	No disclosure on file
Jason S. Hawley, MD	Dr. Hawley has nothing to disclose.
Yitao Ma, MD (Neurology)	Dr. Ma has nothing to disclose.

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