scholarly journals Case Report: Prominent Brainstem Involvement in Two Patients With Anti-CASPR2 Antibody-Associated Autoimmune Encephalitis

2021 ◽  
Vol 12 ◽  
Author(s):  
Pei Liu ◽  
Miao Bai ◽  
Chao Ma ◽  
Yaping Yan ◽  
Gejuan Zhang ◽  
...  
Keyword(s):  
Medial Temporal Lobe ◽  
Clinical Symptoms ◽  
Brain Magnetic Resonance Imaging ◽  
Autoimmune Encephalitis ◽  
Cerebellar Hemisphere ◽  
Gradual Improvement ◽  
Brainstem Lesions ◽  
First Case ◽  
Magnetic Resonance Imaging Mri ◽  
Igg1 Subclass

Anti-contactin-associated protein-like 2 (CASPR2) antibody-associated autoimmune encephalitis is commonly characterized by limbic encephalitis with clinical symptoms of mental and behavior disorders, cognitive impairment, deterioration of memory, and epilepsy. The classical lesions reported are located at the medial temporal lobe or hippocampus, whereas prominent brainstem lesions have not been addressed to date. Herein, we reported two patients mimicking progressive brainstem infarction with severe neurological manifestations. On brain magnetic resonance imaging (MRI), prominent brainstem lesions were noted, although multifocal lesions were also shown in the juxtacortical and subcortical white matters, basal ganglia, hippocampus, and cerebellar hemisphere. Unexpectedly and interestingly, both cases had detectable CASPR2 antibodies in sera, and an exclusive IgG1 subclass was documented in the further analysis. They were treated effectively with aggressive immunosuppressive therapies including corticosteroids, intravenous immunoglobulin G, and rituximab, with the first case achieving a rapid remission and the other undergoing a slow but gradual improvement. To the best of our knowledge, this is the first report on prominent brainstem involvement with definite MRI lesions in anti-CASPR2 antibody-associated autoimmune encephalitis, which helps to expand the clinical spectrum of this rare autoimmune disease and update the lesion patterns in the CNS.

scholarly journals Overlapping anti-N-methyl-D-aspartate receptor (NMDAR) Encephalitis With Neuromyelitis Optica Spectrum Disorders: A Case Report

2021 ◽  
Author(s):  
Jialin Pan ◽  
Begench Ovlyakulov ◽  
Lili zhou
Keyword(s):  
Neuromyelitis Optica ◽  
Brain Magnetic Resonance Imaging ◽  
Chinese Patient ◽  
Cerebellar Hemisphere ◽  
Double Positive ◽  
Blurred Vision ◽  
Aspartate Receptor ◽  
Nmdar Encephalitis ◽  
Magnetic Resonance Imaging Mri ◽  
The Right

Abstract BackgroundAnti-N-methyl-D-aspartate receptor (NMDAR) encephalitis can coexist with neuromyelitis optica spectrum disorder (NMOSD). Patients with overlapping anti-NMDAR encephalitis with positive NMDAR antibodies and aquaporin 4 immunoglobulin G (AQP4-IgG)-seropositive NMOSD are rare but should not be ignored.Case presentationThis report describes a unique case of anti-NMDAR encephalitis coexisting with NMOSD is presented. A 27-year-old male presented with blurred vision, cognitive impairment, psychosis, dysphagia, gait instability and urinary incontinence. Brain magnetic resonance imaging (MRI) showed abnormal signals in the right cerebellar hemisphere, temporal lobe, and corpus callosum. NMDAR antibodies were positive in the CSF. AQP4-IgG antibodies were positive in the serum. The patient's condition was stable following intravenous gamma globulin, corticosteroids, immunosuppressants and symptomatic treatments. ConclusionsThis case provides further evidence for the occurrence of anti-NMDAR encephalitis overlapping NMOSD with AQP4-IgG-seropositive in a Chinese patient. However, the mechanisms underlying the occurrence of double positive antibodies remain elusive.

scholarly journals Frameshift Mutation in Polar Rich Domain (PRD) of PQBP1 Gene Associated with Asymmetric Cerebellar Hemispheres: A Case Report of Renpenning Syndrome

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Dejan Aleksic ◽  
Milan Borkovic ◽  
Jelena Krivacic ◽  
Igor Petrusic ◽  
Vedrana Milic Rasic
Keyword(s):  
Case Report ◽  
Frameshift Mutation ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Cerebellar Hemisphere ◽  
Mild Intellectual Disability ◽  
Chordae Tendineae ◽  
Nasal Bridge ◽  
First Case ◽  
Midfacial Hypoplasia

Introduction: In 1962, Renpenning et al. published an article with 20 male patients from three generations with mental retardation. Scientists suggested that the syndrome with mutation mapped to the locus Xp11.2-p11.4 should be called Renpenning syndrome. The deletion/duplication of an AG dinucleotide on proximal Xp in the polyglutamine tract-binding protein 1 (PQBP1) gene causing frameshift in the fourth coding exon was identified as the most frequent mutation in this syndrome. Renpenning syndrome with asymmetric cerebellar hemispheres has not been reported previously. Case Presentation: In this case report, we presented an 11-year-old male with mild developmental delay and mild intellectual disability, microcephaly, dysmorphic face, short stature, and seizures. The following morphological abnormalities were detected: a wide nasal bridge, midfacial hypoplasia, short philtrum, low-set ears, low hanging columella, high palate, and narrow face. Neurological examination showed upper and lower extremities hypotonia with joint hypermobility. The patient had his first seizure at the age of seven, and he experienced a total of 10 seizures by the age 11. A systolic murmur of intensity 2/6 was present, and echocardiography showed chordae tendineae abnormalities in the left ventricle. Brain magnetic resonance imaging (MRI) showed asymmetric cerebellar hemispheres (mild right cerebellar hemisphere hypoplasia). A frameshift mutation in the polar reach domain (PRD) of the PQBP1 gene (c.459-462 delAGAG) was detected by exome sequencing. Conclusions: We showed the first case of genetically confirmed Renpenning syndrome in Serbia. Our patient had classical clinical manifestations for Renpenning syndrome as a consequence of frameshift mutation in the PRD of the PQBP1 gene. To the best of our knowledge, according to the literature, this is the first patient with Renpenning syndrome with asymmetric cerebellar hemispheres (mild right cerebellar hemisphere hypoplasia).

scholarly journals Leucine-rich glioma-inactivated protein 1 antibody-mediated autoimmune encephalitis in a 4-year-old girl: a case report

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Junxia Luo ◽  
Jianguo Shi ◽  
Yehong Chen ◽  
Wandong Hu ◽  
Yujie Guo ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Case Report ◽  
Antiepileptic Drugs ◽  
Brain Magnetic Resonance Imaging ◽  
Autoimmune Encephalitis ◽  
Epileptic Seizures ◽  
Case Presentation ◽  
Csf Levels ◽  
Clonic Seizures ◽  
Magnetic Resonance Imaging Mri

Abstract Background Leucine-rich glioma-inactivated protein 1 (LGI1) antibody-mediated encephalitis is a rare subtype of autoimmune encephalopathy, which is associated with autoimmunity against the neuronal plasma membrane proteins. The characteristic symptoms of this disease are memory dysfunction, seizures, faciobrachial dystonic seizures, cognitive deficits, neuropsychiatric disturbances, and intractable hyponatremia. The diagnosis of this disease mainly depends on the presence of anti-LGI1 antibody in serum or cerebrospinal fluid of patients. LGI1 antibody encephalitis has been reported mostly in adults, with rare occurrences in children. Case presentation In this report, we described a 4-year-old girl with typical seizures. Seizure types included focal seizures and generalized tonic-clonic seizures. The electroencephalogram findings showed focal discharges. Brain magnetic resonance imaging (MRI) showed normal. The cerebrospinal fluid (CSF) levels of cells, glucose, and chloride were within the normal range, and the culture did not reveal growth of any pathogen. Test of serum LGI1-Ab was positive, while the tests for autoimmune encephalitis antibody series in CSF were negative. The seizures of the patient were completely controlled after the therapy of immunoglobulin, methylprednisolone and antiepileptic drugs (AEDs), and the mental state almost returned to normal. Conclusion To our knowledge, the patient described here may be the youngest case of LGI1 antibody encephalitis reported to date. Children with the LGI1 antibody-associated encephalitis may present only with single symptoms such as epileptic seizures and have good response to the therapy of immunoglobulin, methylprednisolone and antiepileptic drugs. Our case report will provide hints for pediatricians in the diagnosis and treatment of LGI1-antibody encephalitis.

Immune profiling of a patient with alemtuzumab-associated progressive multifocal leukoencephalopathy

2019 ◽  
Vol 25 (8) ◽  
pp. 1196-1201 ◽  
Author(s):  
Simonetta Gerevini ◽  
Ruggero Capra ◽  
Diego Bertoli ◽  
Alessandra Sottini ◽  
Luisa Imberti
Keyword(s):  
Progressive Multifocal Leukoencephalopathy ◽  
B Cell ◽  
Clinical Symptoms ◽  
Jc Virus ◽  
Treated Patient ◽  
First Case ◽  
Cell Diversity ◽  
Clonic Seizures ◽  
Magnetic Resonance Imaging Mri ◽  
Inflammatory Syndrome

A 31-year-old woman affected by multiple sclerosis (MS) experienced generalized tonic–clonic seizures 2 months after the second alemtuzumab cycle. Positive JC virus (JCV)-DNA in cerebrospinal fluid (CSF) and lesion iconography at magnetic resonance imaging (MRI) were suggestive of progressive multifocal leukoencephalopathy (PML). After 1 month, during full-blown immune reconstitution inflammatory syndrome, JCV-DNA became negative and symptoms gradually improved. New T- and B-cell output and T- and B-cell diversity were low and lymphocytes poorly responded to stimulation. This is the first case of an alemtuzumab-treated patient with clinical symptoms and radiological features compatible with PML. The lack of large T- and B-cell diversity, necessary for JCV recognition, is likely to have concurred to PML insurgence.

scholarly journals Risk of Developing Epilepsy after Autoimmune Encephalitis

2021 ◽  
Vol 11 (9) ◽  
pp. 1182
Author(s):  
Ariadna Gifreu ◽  
Mercè Falip ◽  
Jacint Sala-Padró ◽  
Neus Mongay ◽  
Francisco Morandeira ◽  
...  
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Autoimmune Encephalitis ◽  
Hippocampal Atrophy ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Related Risk ◽  
Single Centre Study ◽  
Symptomatic Seizures ◽  
Magnetic Resonance Imaging Mri

Background: Acute symptomatic seizures (ASS) are a common manifestation of autoimmune encephalitis (AE), but the risk of developing epilepsy as a sequela of AE remains unknown, and factors predisposing the development of epilepsy have not been fully identified. Objective: To assess the risk of developing epilepsy in AE and study related risk factors. Materials and methods: This was a retrospective single centre study including patients diagnosed with AE according to criteria described by Graus et al., with a minimum follow-up of 12 months after AE resolution. The sample was divided according to whether patients developed epilepsy or not. Results: A total of 19 patients were included; 3 (15.8%) had AE with intracellular antibodies, 9 (47.4%) with extracellular antibodies, and 7 (36.8%) were seronegative. During follow-up, 3 patients (15.8%) died, 4 (21.1%) presented relapses of AE, and 11 (57.89%) developed epilepsy. There was a significant association between the development of epilepsy and the presence of hippocampal atrophy in control brain magnetic resonance imaging (MRI) (p = 0.037), interictal epileptiform discharges (IED) on control electroencephalogram (EEG) (p = 0.045), and immunotherapy delay (p = 0.016). Conclusions: Hippocampal atrophy in neuroimaging, IED on EEG during follow-up, and immunotherapy delay could be predictors of the development of epilepsy in patients with AE.

scholarly journals Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1955
Author(s):  
Julija Grigaitė ◽  
Kamilė Šiaurytė ◽  
Eglė Audronytė ◽  
Eglė Preikšaitienė ◽  
Birutė Burnytė ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Brain Magnetic Resonance Imaging ◽  
In Silico Analysis ◽  
Magnetic Resonance Imaging Mri ◽  
Biallelic Mutations ◽  
Population Databases ◽  
Autosomal Recessive Manner ◽  
Cerebral Small Vessel Diseases

Biallelic mutations in the high-temperature requirement A serine peptidase 1 (HTRA1) gene are known to cause an extremely rare cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), which belongs to the group of hereditary cerebral small vessel diseases and is mainly observed in the Japanese population. Even though this pathology is inherited in an autosomal recessive manner, recent studies have described symptomatic carriers with heterozygous HTRA1 mutations who have milder symptoms than patients with biallelic HTRA1 mutations. We present the case of a Lithuanian male patient who had a stroke at the age of 36, experienced several transient ischemic attacks, and developed an early onset, progressing dementia. These clinical symptoms were associated with extensive leukoencephalopathy, lacunar infarcts, and microbleeds based on brain magnetic resonance imaging (MRI). A novel heterozygous in-frame HTRA1 gene deletion (NM_002775.5:c.533_535del; NP_002766.1:p.(Lys178del)) was identified by next generation sequencing. The variant was consistent with the patient’s phenotype, which could not be explained by alternative causes, appeared highly deleterious after in silico analysis, and was not reported in the medical literature or population databases to date.

A controlled Valsalva Maneuver causes neither Diffusion-Positive Hippocampal Lesions nor Clinical Symptoms after Transient Global Amnesia

2019 ◽  
Vol 82 (4-6) ◽  
pp. 113-115
Author(s):  
Manuel Gomez-Choco ◽  
Ariel Fernando Mariaca ◽  
Christian Gaebel ◽  
José Manuel Valdueza
Keyword(s):  
Clinical Symptoms ◽  
Valsalva Maneuver ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Transient Global Amnesia ◽  
Resonance Imaging ◽  
Hippocampal Lesions ◽  
Global Amnesia ◽  
Magnetic Resonance Imaging Mri ◽  
Age Range

Valsalva maneuver (VM) precedes frequently transient global amnesia (TGA) and up to 84% of the patients with TGA present hippocampal diffusion-weighted imaging-positive (DWI+) lesions on brain magnetic resonance imaging (MRI). We studied 20 patients with TGA and hippocampal DWI+ lesions. Median age (range) of the patients was 67 (57–80) years and 55% were women. TGA had been preceded by a VM-associated activity in 14 patients (70%), and brain MRI had been performed at a median (range) of 47.5 (42–79) h after TGA. These patients underwent a second MRI after a controlled-induced VM at least 3 months after TGA. This MRI was performed at a median (range) of 46.8 (41–138) h after the controlled-induced VM. None of the patients who reproduced TGA symptoms presented new DWI+ lesions on the second MRI. In patients with a previous episode of TGA, VM cannot elicit TGA in isolation and the interplay of other simultaneous factors is needed.

TBE in Lithuania

2020 ◽  
Keyword(s):  
Viral Encephalitis ◽  
Clinical Symptoms ◽  
Shoulder Girdle ◽  
Muscle Paralysis ◽  
First Case ◽  
Tick Borne Encephalitis ◽  
Autopsy Data ◽  
Forest Worker ◽  
Girdle Muscle ◽  
Shoulder Girdle Muscle

The first case of tick-borne encephalitis (TBE) in Lithuania, diagnosed by clinical and epidemiologic criteria only, was reported in 1953. A forest worker became ill with the disease in April after a tick bite, had a typical clinical presentation with shoulder girdle muscle paralysis and bulbar syndrome, and died after 12 days from the start of clinical symptoms. Autopsy data were compatible with viral encephalitis.1 Serological diagnosis of TBE in Lithuania was started in 1970.2

Novel Coronavirus Disease (COVID-19): A Narrative Review Based on Current Status

2020 ◽  
Vol 18 ◽  
Author(s):  
Rina Das ◽  
Dinesh Kumar Mehta ◽  
Meenakshi Dhanawat
Keyword(s):  
Severe Acute Respiratory Syndrome ◽  
Clinical Symptoms ◽  
Virus Disease ◽  
Relevant Literature ◽  
World Health ◽  
Current Status ◽  
Future Research ◽  
Treatment And Prevention ◽  
First Case ◽  
Novel Coronavirus

Abstract:: A novel virus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), appeared and expanded globally by the end of year in 2019 from Wuhan, China, causing severe acute respiratory syndrome. During its initial stage, the disease was called the novel coronavirus (2019-nCoV). It was named COVID-19 by the World Health Organization (WHO) on 11 February 2020. The WHO declared worldwide the SARS-CoV-2 virus a pandemic on March 2020. On 30 January 2020 the first case of Corona Virus Disease 2019 (COVID-19) was reported in India. Now in current situation the virus is floating in almost every part of the province and rest of the globe. -: On the basis of novel published evidences, we efficiently summarized the reported work with reference to COVID-19 epidemiology, pathogen, clinical symptoms, treatment and prevention. Using several worldwide electronic scientific databases such as Pubmed, Medline, Embase, Science direct, Scopus, etc were utilized for extensive investigation of relevant literature. -: This review is written in the hope of encouraging the people successfully with the key learning points from the underway efforts to perceive and manage SARS-CoV-2, suggesting sailent points for expanding future research.

scholarly journals Coexistence of neuronal intranuclear inclusion disease and amyotrophic lateral sclerosis: an autopsy case

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Atsuhiko Sugiyama ◽  
Takahiro Takeda ◽  
Mizuho Koide ◽  
Hajime Yokota ◽  
Hiroki Mukai ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Repeat Expansion ◽  
Cerebellar Hemisphere ◽  
Intranuclear Inclusions ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion ◽  
Lateral Sclerosis

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Pathologically, it is characterized by eosinophilic hyaline intranuclear inclusions in the cells of the visceral organs as well as central, peripheral, and autonomic nervous system cells. Recently, a GGC repeat expansion in the NOTCH2NLC gene has been identified as the etiopathological agent of NIID. Interestingly, this GGC repeat expansion was also reported in some patients with a clinical diagnosis of amyotrophic lateral sclerosis (ALS). However, there are no autopsy-confirmed cases of concurrent NIID and ALS. Case presentation A 60-year-old Taiwanese woman reported a four-month history of progressive weakness beginning in the right foot that spread to all four extremities. She was diagnosed with ALS because she met the revised El Escorial diagnostic criteria for definite ALS with upper and lower motor neuron involvement in the cervical, thoracic, and lumbosacral regions. She died of respiratory failure at 22 months from ALS onset, at the age of 62 years. Brain magnetic resonance imaging (MRI) revealed lesions in the medial part of the cerebellar hemisphere, right beside the vermis (paravermal lesions). The subclinical neuropathy, indicated by a nerve conduction study (NCS), prompted a potential diagnosis of NIID. Antemortem skin biopsy and autopsy confirmed the coexistence of pathology consistent with both ALS and NIID. We observed neither eccentric distribution of p62-positive intranuclear inclusions in the areas with abundant large motor neurons nor cytopathological coexistence of ALS and NIID pathology in motor neurons. This finding suggested that ALS and NIID developed independently in this patient. Conclusions We describe a case of concurrent NIID and ALS discovered during an autopsy. Abnormal brain MRI findings, including paravermal lesions, could indicate the coexistence of NIID even in patients with ALS showing characteristic clinical phenotypes.

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