ABSTRACT
RATIONALE: Anti-IgLON5 disease was first described as a progressive antibody-associated encephalopathy, with multiple non-specific clinical symptoms including sleep dysfunction, bulbar symptoms, progressive supranuclear palsy-like syndrome, cognitive impairment, and a variety of movement disorders. This newly discovered disease presents with unremarkable or unspecific brain magnetic resonance imagings (MRI), and have poor responsiveness to immunotherapy. PATIENT CONCERNS: In this case, a 37-year-old man presented with 4-day history of gait instability, dysarthria, and oculomotor abnormalities. The initial neurologic examination revealed mild unsteady gait, subtle dysarthria, and left abducent paralysis. DIAGNOSIS: The patient was diagnosed with anti-IgLON5 disease, based on clinical features and positive anti-IgLON5 antibodies in serum. INTERVENTIONS: Initially, the patient was treated with high dosages of methylprednisolone and immunoglobulins.Outcomes: The symptoms of patient rapidly improved after high-dose intravenous methylprednisolone and immunoglobulins. CONCLUSIONS: In this paper, we report a new case of anti-IgLON5 disease with major symptoms of gait instability, dysarthria, and oculomotor abnormalities, with distinctive brain MRI findings, and responsive to immunotherapy.
Subject(s)
Autoantibodies/blood , Autoimmune Diseases of the Nervous System/diagnostic imaging , Cell Adhesion Molecules, Neuronal/immunology , Encephalitis/diagnostic imaging , Magnetic Resonance Imaging/methods , Adult , Autoantibodies/immunology , Autoimmune Diseases of the Nervous System/drug therapy , Autoimmune Diseases of the Nervous System/immunology , Brain/diagnostic imaging , Dysarthria/diagnostic imaging , Dysarthria/drug therapy , Dysarthria/immunology , Encephalitis/drug therapy , Encephalitis/immunology , Gait Disorders, Neurologic/diagnostic imaging , Gait Disorders, Neurologic/drug therapy , Gait Disorders, Neurologic/immunology , Humans , Male , Neuroimaging/methods , Oculomotor Nerve Diseases/diagnostic imaging , Oculomotor Nerve Diseases/drug therapy , Oculomotor Nerve Diseases/immunologySubject(s)
Antibodies/adverse effects , Dysarthria/immunology , Encephalitis/immunology , Myelin-Oligodendrocyte Glycoprotein/immunology , Antibodies/blood , Dysarthria/complications , Dysarthria/diagnostic imaging , Dysarthria/pathology , Encephalitis/complications , Encephalitis/diagnostic imaging , Encephalitis/pathology , Female , Humans , Magnetic Resonance Imaging , Middle Aged , Neuroimaging , Tegmentum Mesencephali/pathologyABSTRACT
An 82-year-old woman developed neck weakness and dysarthria with antibodies against acetylcholine receptor (AChR) and low-density lipoprotein receptor-related protein 4 (LRP4). Myasthenia gravis (MG) was diagnosed by edrophonium and repetitive nerve stimulation tests. Her symptoms resolved completely by immunotherapy. One year later, she presented with muscle weakness and bulbar palsy accompanied by atrophy and fasciculation. Her tendon reflexes were brisk, and Babinski's sign was positive. She was diagnosed with probable amyotrophic lateral sclerosis (ALS). Immunotherapy did not improve her symptoms, and she ultimately died of respiratory failure. MG and ALS may share a pathophysiology, including anti-LRP4 antibodies at the neuromuscular junction.
Subject(s)
Amyotrophic Lateral Sclerosis/immunology , Autoantibodies/blood , LDL-Receptor Related Proteins/immunology , Myasthenia Gravis/immunology , Receptors, Cholinergic/immunology , Aged, 80 and over , Amyotrophic Lateral Sclerosis/complications , Amyotrophic Lateral Sclerosis/therapy , Bulbar Palsy, Progressive/immunology , Dysarthria/immunology , Female , Humans , Immunotherapy/methods , Muscle Weakness/immunology , Myasthenia Gravis/complications , Myasthenia Gravis/therapy , Neurologic Examination , Reflex, BabinskiABSTRACT
We report on four consecutive patients with Parkinson's disease, in whom anti-acetylcholine receptor (AChR) antibody positive bulbar myasthenia gravis (MG) turned out to be responsible for progressive dysphagia.
Subject(s)
Deglutition Disorders/diagnosis , Disease Progression , Myasthenia Gravis/diagnosis , Myasthenic Syndromes, Congenital/diagnosis , Parkinson Disease/diagnosis , Aged, 80 and over , Autoantibodies/blood , Deglutition Disorders/classification , Deglutition Disorders/immunology , Diagnosis, Differential , Dysarthria/classification , Dysarthria/diagnosis , Dysarthria/immunology , Humans , Male , Myasthenia Gravis/classification , Myasthenia Gravis/immunology , Myasthenic Syndromes, Congenital/classification , Myasthenic Syndromes, Congenital/immunology , Parkinson Disease/classification , Parkinson Disease/immunology , Receptors, Cholinergic/immunologyABSTRACT
A previously healthy 9-year-old girl presented with a 10-day history of slowly progressive unsteadiness, slurred speech, and behavior change. On examination there was cerebellar ataxia and dysarthria, excessive blinking, subtle perioral myoclonus, and labile mood. The finding of oligoclonal bands in the cerebrospinal fluid prompted paraneoplastic serological evaluation and search for an occult neural crest tumor. Antineuronal nuclear autoantibody type 1 (anti-Hu) and voltage-gated potassium channel complex antibodies were detected in serum. Metaiodobenzylguanidine scan and computed tomography scan of the abdomen showed a localized abdominal mass in the region of the porta hepatis. A diagnosis of occult neuroblastoma was made. Resection of the stage 1 neuroblastoma and treatment with pulsed corticosteroids resulted in resolution of all symptoms and signs. Excessive blinking has rarely been described with neuroblastoma, and, when it is not an isolated finding, it may be a useful clue to this paraneoplastic syndrome. Although voltage-gated potassium channel complex autoimmunity has not been described previously in the setting of neuroblastoma, it is associated with a spectrum of paraneoplastic neurologic manifestations in adults, including peripheral nerve hyperexcitability disorders.
