A Pediatric Case of Autoimmune Cerebellar Ataxia With Anti-Tr/DNER Antibodies
Brigit-Alexandra High1, Scott Rosenthal1, Ryan Kammeyer2, Amanda Piquet1
1University of Colorado, 2Childrens Hospital Colorado
Objective:
To present a pediatric patient with a subacute progressive cerebellar syndrome associated with anti-Tr/Notch-like epidermal growth factor-related receptor (DNER) antibody highlighting the need for optimizing treatment in pediatric patients.
Background:
Anti-Tr/DNER-associated cerebellar ataxia is a rare disorder, predominantly affecting middle-aged males and highly associated with Hodgkin’s lymphoma. Patients typically present with cerebellar ataxia prior to tumor diagnosis. Due to the paucity of literature surrounding pediatric cases, optimal treatment remains unclear as current recommendations are based on a systemic case review spanning a wide age range with a mean age of 47.
Design/Methods:
Case report
Results:
A 17-year-old female presented with three months of progressively worsening ataxia, nystagmus, dysarthria, headaches, and weight loss. She was found to have highly positive serum anti-Tr antibodies targeting Purkinje cells (1:1920, ref <1:240 titer, Mayo Clinic Laboratories), also present in cerebrospinal fluid (CSF immunoblot positive, titer unavailable). LP demonstrated 32 WBC (61% neutrophils), 0 RBC, normal glucose and protein, and 5 unique oligoclonal bands. Brain MRI demonstrated decreased cerebral and cerebellar volumes as well as scattered patchy foci with leptomeningeal enhancement but no cytopathological evidence for CNS lymphoma. Full body PET/CT scan was negative for malignancy. Her symptoms improved after treatment with high dose methylprednisolone and intravenous immunoglobulin (IVIg). She continued treatment on an oral prednisone taper, monthly IVIg, and rituximab as maintenance therapy, with regular planned malignancy screening every six months for four years.
Conclusions:
We present a pediatric case of anti-Tr/DNER-associated cerebellar ataxia. While commonly associated with malignancy, none was found in the patient to date. Patients’ responses to immunotherapy can be poor, although prior analysis suggests that younger patients have a higher prevalence of favorable neurological outcomes. Currently there is no standard approach to treatment, however we report a favorable response to first line therapy with steroids and IVIg, followed by second-line therapy in this case.
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