An 83-year-old woman was referred to hospital with a 2-week history of short-lived episodic unpleasant sensations in her head and running down her body. This was accompanied by new short-term memory impairment and arm spasms. Initial investigations including blood tests and brain imaging did not reveal the diagnosis. The patient developed an increasing frequency of abnormal movements of her face and arm. These were clinically recognised as faciobrachial dystonic seizures (FBDS). FBDS are pathognomonic of an autoimmune encephalitis caused by an antibody directed against leucine-rich glioma-inactivated 1 (LGI1). The clinical diagnosis resulted in treatment with immunotherapy, leading to cessation of seizures and rapid cognitive recovery. Later, the predicted serology was confirmed. This reversible and under-recognised cause of cognitive impairment, typically affecting elderly patients, can be diagnosed clinically to enable early and effective treatment.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802655PMC
http://dx.doi.org/10.1136/bcr-2020-237398DOI Listing

Publication Analysis

Top Keywords

clinical diagnosis
8
83-year-old woman
8
diagnosis lgi1
4
lgi1 antibody
4
antibody encephalitis
4
encephalitis 83-year-old
4
woman 83-year-old
4
woman referred
4
referred hospital
4
hospital 2-week
4

Similar Publications

Value of ultrasound-assessed dactylitis in the early diagnosis of psoriatic arthritis.

Semin Arthritis Rheum

December 2024

Department of Rheumatology and Joint and Bone Research Unit. Fundación Jiménez Díaz University Hospital and Health Research Institute Fundación Jiménez Díaz (IIS-FJD, UAM), Autonomous University of Madrid, Madrid, Spain. Electronic address:

Purpose: The primary objective of this prospective, longitudinal, observational, single-centre study was to evaluate the association between ultrasound-assessed lesions of dactylitis and the diagnosis of psoriatic arthritis (PsA) in patients with psoriasis (PsO) and hand arthralgia.

Methods: We included adult patients diagnosed with PsO with hand arthralgia, with or without other musculoskeletal complaints. They were clinically assessed at baseline, 6 and 12 months by a rheumatologist blinded to the ultrasound findings.

View Article and Find Full Text PDF

Background: In clinical practices, doctors usually need to synthesize several single-modality medical images for diagnosis, which is a time-consuming and costly process. With this background, multimodal medical image fusion (MMIF) techniques have emerged to synthesize medical images of different modalities, providing a comprehensive and objective interpretation of the lesion.

Purpose: Although existing MMIF approaches have shown promising results, they often overlook the importance of multiscale feature diversity and attention interaction, which are essential for superior visual outcomes.

View Article and Find Full Text PDF

A 16-year-old adolescent girl presented with progressive walking imbalance, uncoordination of her limbs, impaired proprioceptive sensation distal to her wrists and ankles, and sensorineural hearing loss. Her evaluation revealed diffuse cerebellar atrophy, a demyelinating neuropathy, and hypergonadotropic hypogonadism. In this article, we present a systematic approach to a patient with early-onset ataxia, cerebellar atrophy, and demyelinating neuropathy.

View Article and Find Full Text PDF

Clinical Reasoning: A 35-Year-Old Woman With Personality Change and Gait Impairment.

Neurology

January 2025

From the Neurology Department, Unidade Local de Saúde de Coimbra, Portugal.

A 35-year-old woman presented with a progressive 3-year history of personality changes and gait impairment. Neurologic examination revealed bilateral optic atrophy, spastic paraparesis, and impaired vibratory sensation in all limbs, and neuropsychological evaluation identified a frontotemporal cognitive impairment. In this article, we review the differential diagnosis for a young woman with chronic frontotemporal dysfunction, optic atrophy, and dorsolateral myelopathy in a stepwise multidisciplinary approach.

View Article and Find Full Text PDF

Early detection of focal cortical dysplasia (FCD) using brain MRI in young children presenting with drug-resistant epilepsy may facilitate prompt surgical treatment, resulting in better control of seizures and decreased associated cognitive difficulties. Characteristics of FCD described in the literature are predominantly based on MRI findings in a fully myelinated brain; therefore, changes occurring during early brain maturation are not well known. In this case report, we describe distinct MRI features of a FCD visualized best before completion of myelination of the cortex and subcortical white matter.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!