A novel treatment‐responsive encephalitis with frequent opsoclonus and teratoma

Abstract

Among 249 patients with teratoma-associated encephalitis, 211 had N-methyl-D-aspartate receptor antibodies and 38 were negative for these antibodies. Whereas antibody-positive patients rarely developed prominent brainstem–cerebellar symptoms, 22 (58%) antibody-negative patients developed a brainstem–cerebellar syndrome, which in 45% occurred with opsoclonus. The median age of these patients was 28.5 years (range = 12–41), 91% were women, and 74% had full recovery after therapy and tumor resection. These findings uncover a novel phenotype of paraneoplastic opsoclonus that until recently was likely considered idiopathic or postinfectious. The triad of young age (teenager to young adult), systemic teratoma, and high response to treatment characterize this novel brain-stem–cerebellar syndrome.

Clinical and Immunological Features of Opsoclonus-Myoclonus Syndrome in the Era of Neuronal Cell Surface Antibodies

“…The current findings along with those of previous studies 2,3,21-23 have several practical implications for the diagnosis and management of patients with this disorder. First, once toxic, metabolic, and structural causes of OMS are ruled out, 1 the most important indicator of paraneoplastic OMS is the patient's age.…”

“…Antineuronal antibodies are usually negative, although a few exceptions have been reported (summarized in eTable 2 in the Supplement). 29-31 In this age group, it is important to exclude an underlying ovarian teratoma or HIV infection, 23,32 which in the current series occurred in 12 of 70 patients younger than 40 years (17%). Patients with ovarian teratoma frequently develop additional symptoms, such as dysautonomia, behavioral change, or drowsiness, and results of testing for NMDAR antibodies are almost always negative.…”

“…First, once toxic, metabolic, and structural causes of OMS are ruled out, 1 the most important indicator of paraneoplastic OMS is the patient's age. For adult patients younger than 40 years, the probability of an underlying tumor other than ovarian teratoma 23 is very low, suggesting that aggressive or periodic investigations for an occult cancer and the use of extensive panels of paraneoplastic antibodies are not necessary (with the exception of Ri antibodies in middle-aged women). Second, P-OMS should be considered in older patients who develop encephalopathy or symptoms beyond the classic picture of OMS.…”

Management of Immune-Mediated Paraneoplastic Neurological Disorders

“…Reports of an effective treatment with corticosteroids, cyclophosphamide, or plasma exchange are limited to few cases [73]. In younger patients, an association between teratoma, anti-NMDAR-Abs negative encephalitis (mostly with brain stem involvement) and OMS has been described [78]. After tumor resection and immunotherapy (methylprednisolone, in some cases combined with IVIG and plasma exchange), 8 of 10 patients became symptom-free and 2 experienced residual ataxia and dysarthria.…”

When Dementia Progresses Quickly: A Practical Approach to the Diagnosis and Management of Rapidly Progressive Dementia

“…Amyloid-β 42 Total tau p-tau 14-3-3 NSE S100b described on an ongoing basis -with [31,35] and without [69] associated autoantibodies. Referral to a tertiary care center should be considered if extended testing is not available at a patient's center, or if specific immunosuppressive therapies are required for patients with suspected tumor-or antibody-mediated limbic encephalitis.…”