A Rare Convergence: A Case Report on a Pediatric Patient with Small-Vessel Vasculitis, NMDA-Receptor Encephalitis, and CNS Lupus
Year: 2024
Type: article
Study design: Case Report
Abstract: Objective To discuss a pediatric patient with dual diagnoses of small-vessel vasculitis and anti-NMDA receptor encephalitis (NMDARE), with final presentation most consistent with CNS lupus. Background Patients with NMDARE typically present with subacute encephalopathy with cognitive decline, extrapyramidal movements, seizures, autonomic dysfunction, and in rare cases stroke-like episodes. Positive NMDAR antibodies have also been shown in up to 30% of lupus patients, which has been theorized to relate to the cross-reactivity of anti-NMDA antibodies and anti-double stranded DNA antibodies. Design/Methods N/A. Results Our patient is an eight-year-old girl who presented with progressive stroke-like deficits, including dysphagia, dysarthria, right-sided weakness, cognitive slowing, and focal seizures. Imaging demonstrated a large inflammatory and tumefactive-appearing left cortical and subcortical brain lesion. Large vessel arterial imaging was normal. CSF studies indicated mild lymphocytic pleocytosis, positive oligoclonal bands (4), and positive NMDAR IgG (in CSF). Serum labs showed positive ANA (1:640 titer with speckled pattern) and negative anti-double stranded DNA. Given atypical clinical and imaging features for NMDARE or primary vasculitis, she underwent brain biopsy, which revealed a destructive vasculitis, with both plasma and CD8 T-cell mediated inflammation. Complement levels were initially normal, then C3 was low (77 mg/dL) one month after initial presentation. The patient was treated with high-dose steroids and IV immunoglobulin, then escalated to plasmapheresis with only modest improvement. Ultimately, she underwent rituximab induction and was maintained on mycophenolate mofetil. Clinically, she had speech and motor improvements. However, surveillance imaging three months after presentation revealed new right-sided lesions. Given her bilateral vasculitic lesions, positive ANA, and low C3, she was ultimately diagnosed with CNS lupus and started on cyclophosphamide and hydroxychloroquine. Conclusions To our knowledge, the co-occurrence of pediatric NMDARE, small-cell vasculitis, and CNS lupus has not been well-described. More research is needed on the pathophysiology and histopathology of these overlapping diagnoses.
Source: Neurology
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4403207153