Hashimoto's encephalopathy is a rare life-threatening disease entity with clinical presentation like psychiatric as well as neurological diseases, thus making it a challenging clinical scenario for physicians leading to delay in diagnosis and management of the patient. The incidence overall is under-estimated because of low overall awareness about the disease. Here, we report a 44-year-old female who was being treated for psychiatric disorders because of clinical presentation like catatonia but ultimately was diagnosed with Hashimoto's encephalopathy and responded very well to steroids.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114560PMC
http://dx.doi.org/10.4103/jfmpc.jfmpc_1373_22DOI Listing

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Article Synopsis
  • This research investigates the potential biomarkers and metabolic changes in cerebrospinal fluid (CSF) of patients with autoimmune encephalitis (AE) compared to healthy controls.
  • A total of 21 potential biomarkers were identified, with elevated levels of pyruvic and oxoglutaric acids, pointing to a dysregulated TCA cycle in AE patients.
  • Additionally, the study highlights differences in unsaturated fatty acid metabolism, indicating that these metabolic pathways may play a significant role in understanding the pathology of AE.
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Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disease with a characteristic pathological feature of eosinophilic hyaluronan inclusions in the nervous system and internal organs. The identification of GGC-repeat expansions in the Notch 2 N-terminal like C (NOTCH2NLC) gene facilitates the accurate diagnosis of NIID. Due to its rareness and high clinical heterogeneity, the diagnosis of NIID is often delayed or missed.

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Differential diagnosis and comparison of diagnostic algorithms in children and adolescents with autoimmune encephalitis in Spain: a prospective cohort study and retrospective analysis.

Lancet 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.

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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.

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