Common variable immunodeficiency is associated with a myriad of clinical manifestations—several phenotypes have been described. Neurologic manifestations of CVID, however, are less common and not well summarized in the literature. After our patient suffered significant neurologic morbidity, we sought to determine the range of neurologic conditions associated with CVID.
Case report and review of the literature.
A 42 year-old woman was diagnosed with CVID in 2007 after presenting with pneumonia, recurrent cough, and presumptive coccidiomycosis. Lung biopsy demonstrated lymphocytic interstitial pneumonia with granulomatous inflammation, which stabilized on mycophenylate. Her course was complicated by lymphocytic colitis, refractory to multiple medications, bilateral choroidal lesions and optic neuritis.
She subsequently developed left-hand weakness and incoordination. MRI demonstrated enhancing lesions of the left cerebellar hemisphere with mass effect. A seizure soon followed along with evidence of more extensive meningeal enhancement. Two biopsies and CSF analyses with culture dependent and independent methods revealed no specific etiology. Significant clinical improvement was seen after three days of IV methylprednisolone. Her medications were subsequently changed to rituximab and azathioprine with neurologic stability achieved for the past 6 months.
Though rare, neurologic complications have been described in patients with CVID. These include infections of the brain or spinal cord, autoimmune conditions, progressive neurodegeneration and unusual manifestations of the immunodeficiency itself, among others. The patient described here had no evidence of infection or lymphoma, and has remained neurologically stable since receiving rituximab, suggesting an autoimmune etiology for her neurologic manifestations.