ABSTRACT
Glutamic acid decarboxylase (GAD) has been recently identified as a target of humoral autoimmunity in a small subgroup of patients with non-paraneoplastic limbic encephalitis (NPLE). We present a patient with NPLE and positive anti-GAD antibodies who showed significant improvement after long-term immunotherapy. A 48-year old female was admitted with a two-year history of anterograde amnesia and seizures. Brain MRI revealed bilateral lesions of medial temporal lobes. Screening for anti-neuronal antibodies showed high anti-GAD titers in both serum and cerebrospinal fluid (CSF) with strong evidence of intrathecal production. The patient received treatment with prednisolone and long-term plasma exchange. During a 12-month follow-up, she exhibited complete seizure remission and an improvement in memory and visuo-spatial skills. Anti-GAD antibodies may serve as a useful marker to identify a subset of NPLE patients that respond to immunoregulatory treatment.
Subject(s)
Antibodies/blood , Antibodies/cerebrospinal fluid , Glutamate Decarboxylase/immunology , Immunotherapy/methods , Limbic Encephalitis/therapy , Aspartic Acid/analogs & derivatives , Aspartic Acid/metabolism , Choline , Cognition Disorders/etiology , Cognition Disorders/therapy , Creatine , Female , Humans , Limbic Encephalitis/blood , Limbic Encephalitis/cerebrospinal fluid , Limbic Encephalitis/complications , Magnetic Resonance Imaging , Middle Aged , Perceptual Disorders/etiology , Perceptual Disorders/therapy , Plasma Exchange/methods , Prednisolone/therapeutic use , Visual Perception/drug effects , Visual Perception/physiologyABSTRACT
Opsoclonus-myoclonus-ataxia syndrome (OMS) is a rare neurological disorder of probably autoimmune origin. Most cases are associated with a remote neoplasm or a viral infection; however in some instances no underlying aetiology can be demonstrated. We report the presence of anti-glutamic acid decarboxylase antibodies (anti-GAD Abs) in the serum and CSF of a patient with idiopathic OMS. Treatment with intravenous immunoglobulin led to a remarkable clinical improvement with parallel reduction of anti-GAD titers. Anti-GAD Abs have been associated with several neurological syndromes. They could also be responsible for the clinical triad of OMS, by impairing GABAergic transmission in specific brainstem and cerebellar circuits. We propose that testing for anti-GAD Abs should be performed in OMS, especially when no other aetiological association can be demonstrated.
Subject(s)
Autoantibodies/analysis , Autoimmune Diseases/complications , Autoimmune Diseases/immunology , Gait Ataxia/etiology , Gait Ataxia/immunology , Glutamate Decarboxylase/immunology , Myoclonus/etiology , Myoclonus/immunology , Ocular Motility Disorders/etiology , Ocular Motility Disorders/immunology , Adult , Anti-Inflammatory Agents/therapeutic use , Anticonvulsants/therapeutic use , Autoantibodies/blood , Autoantibodies/cerebrospinal fluid , Female , Gait Ataxia/drug therapy , Humans , Methylprednisolone/therapeutic use , Myoclonus/drug therapy , Ocular Motility Disorders/drug therapy , Radioimmunoassay , Syndrome , Valproic Acid/therapeutic useABSTRACT
Unruptured cerebral arterial aneurysms most often remain asymptomatic, but they may cause headache or other symptoms or signs. We describe herewith a case of headache attributed to an unruptured internal carotid artery aneurysm, clearly mimicking the phenotype of hemicrania continua. Potential pathophysiological explanations and recommendations for recognition of similar cases are discussed.
