Anti-IgLON family protein 5 (IgLON5) antibody-related encephalitis is a rare but increasingly recognized central nervous system autoimmune disease. It displays heterogeneity in clinical presentation. As the clinical case repository expands, our understanding of the disease's clinical phenotypes and therapeutic approaches continues to evolve. This report details a 73-year-old male's case, initially misdiagnosed with narcolepsy due to excessive daytime sleepiness and sleep-related involuntary behaviors, but later found to have severe respiratory disturbances, diverging from narcolepsy. During treatment, the patient's condition progressed to respiratory failure, necessitating further investigation. Diagnosis was confirmed through positive serum and cerebrospinal fluid (CSF) tests for anti-IgLON5 antibodies. Treatment with continuous positive airway pressure (CPAP), immunoglobulin pH4, and corticosteroids significantly improved his condition. This case underscores the critical need for awareness of anti-IgLON5 encephalitis within the differential diagnosis of complex sleep disorders, highlighting its potential for severe progression and the challenges associated with its diagnosis.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11408130 | PMC |
http://dx.doi.org/10.1016/j.heliyon.2024.e36451 | DOI Listing |
J Neuroimmunol
December 2024
Department of Neurology, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; Center for Multiple Sclerosis and Autoimmune Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address:
IgLON5 autoimmunity is characterized by a diverse range of clinical presentations, including neuropsychiatric symptoms, sleep disturbances, gait instability, and bulbar symptoms, that are usually insidiously progressive. While some individuals with specific HLA haplotypes may be more susceptible to developing anti-IgLON5 disease, this antibody is typically not associated with a paraneoplastic etiology nor known to be induced by immune checkpoint inhibitors (ICI). We present a clinical and serological workup of a patient who developed symptoms of IgLON5 autoimmunity following treatment with pembrolizumab.
View Article and Find Full Text PDFLancet Neurol
January 2025
Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer/CaixaResearch Institute, Hospital Clínic de Barcelona, Barcelona, Spain; Pediatric Neuroimmunology Unit, Neurology Department, Sant Joan de Déu Children's Hospital, Barcelona, Spain; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain; European Reference Networks-RITA. Electronic address:
Background: The usefulness of current diagnostic approaches in children with suspected autoimmune encephalitis is unknown. We aimed to assess the diagnosis of autoimmune encephalitis in clinical practice and to compare the performance of two international diagnostic algorithms (one intended for patients of any age [general], the other intended for paediatric patients), with particular emphasis on the evaluation of patients with probable antibody-negative autoimmune encephalitis because this diagnosis suggests that immunotherapy should be continued or escalated but is difficult to establish.
Methods: We did a prospective cohort study that included all patients (<18 years of age) with suspected autoimmune encephalitis recruited at 40 hospitals in Spain whose physicians provided clinical information every 6 months for 2 years or more.
Arq Neuropsiquiatr
December 2024
Hospital Israelita Albert Einstein, Instituto do Cérebro, São Paulo SP, Brazil.
Since the description of autoimmune encephalitis (AE) associated with N-methyl-D-aspartate receptor antibodies (anti-NMDARE) in 2007, more than 12 other clinical syndromes and antibodies have been reported. In this article, we review recent advances in pathophysiology, genetics, diagnosis pitfalls, and clinical phenotypes of AE associated with cell surface antibodies and anti-GAD associated neurological syndromes. Genetic studies reported human leukocyte antigen (HLA) associations for anti-LGI1, anti-Caspr2, anti-IgLON5, and anti-GAD.
View Article and Find Full Text PDFNeurol Neuroimmunol Neuroinflamm
January 2025
Service of Neurology, Hospital Clinic, Barcelona, Spain.
Anti-IgLON5 disease was identified 10 years ago, thanks to the discovery of IgLON5 antibodies and the joint effort of specialists in sleep medicine, neuroimmunology, and neuropathology. Without this collaboration, it would have been impossible to untangle fundamental aspects of this disease. After the seminal description in 2014, today there is growing evidence that most patients present a chronic progressive course with gait instability, abnormal movements, bulbar dysfunction, and a sleep disorder characterized by nonrapid eye movement and REM parasomnias, and obstructive sleep apnea with stridor.
View Article and Find Full Text PDFNeurology
January 2025
(Ann Arbor, MI).
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!