scholarly journals Insomnia and Dysautonomia with Contactin-Associated Protein 2 and Leucine-Rich Glioma Inactivated Protein 1 Antibodies: A “Forme Fruste” of Morvan Syndrome?

2019 ◽  
Vol 11 (1) ◽  
pp. 80-86
Author(s):  
Ezgi Bakırcıoğlu-Duman ◽  
Zeynep Acar ◽  
Gülçin Benbir ◽  
Hande Yüceer ◽  
Hürtan Acar ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Neuropsychological Assessment ◽  
Executive Dysfunction ◽  
Cognitive Symptoms ◽  
Neurologic Examination ◽  
Cognitive Domains ◽  
Needle Electromyography ◽  
Muscle Twitching ◽  
Peripheral Nerve Hyperexcitability ◽  
History Of

Morvan syndrome (MoS) is typically characterized by neuromyotonia, sleep dysfunction, dysautonomia, and cognitive dysfunction. However, MoS patients with mild peripheral nerve hyperexcitability (PNH) or encephalopathy features have been described. A 46-year-old woman presented with a 2-month history of constipation, hyperhidrosis, and insomnia. Neurologic examination revealed muscle twitching and needle electromyography showed myokymic discharges in all limbs. No clinical or electrophysiological features of neuromyotonia were present. Although the patient denied any cognitive symptoms, neuropsychological assessment revealed executive dysfunction, while other cognitive domains were preserved. Cranial and spinal MRIs were unrevealing and tumor investigation proved negative. Polysomnography examination revealed total insomnia, which was partially reversed upon immune-modulatory therapy. Investigation of a broad panel of antibodies revealed serum leucine-rich glioma inactivated protein 1 and contactin-associated protein 2 antibodies. The features of this case indicate that the presentation of PNH syndromes may show significant variability and that MoS patients may not necessarily exhibit full-scale PNH and encephalopathy symptoms.

scholarly journals Malignant Peripheral Nerve Sheath Tumor of the Infraorbital Nerve

2016 ◽  
Vol 9 (2) ◽  
pp. 170-174
Author(s):  
JoséLuis D'Addino ◽  
Laura Piccoletti ◽  
MaríaMercedes Pigni ◽  
Maria José Rodriguez Arenas de Gordon
Keyword(s):  
Peripheral Nerve ◽  
Chronic Atrial Fibrillation ◽  
Radical Resection ◽  
Infraorbital Nerve ◽  
Malignant Schwannoma ◽  
Ocular Motility ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumor ◽  
Nerve Sheath ◽  
History Of

The objective of this study is to report a large, rare, and ulcerative infiltrated skin lesion. Its diagnosis, therapeutic management, and progress are described. The patient is a 78-year-old white man, who presented with a 12-month ulcerative perforated lesion that had affected and infiltrated the skin, with easy bleeding. He had a history of hypertension, although controlled, was a 40-year smoker, had chronic atrial fibrillation, diabetes, and microangiopathy. During the consultation, the patient also presented with ocular obstruction due to an inability to open the eye. He mentioned having reduced vision. The computed tomography scan showed upper maxilla osteolysis without eye involvement. We underwent a radical resection in which upper maxilla and the anterior orbital margin were included. We used a Becker-type flap that allowed us to rebuild the cheek and to complete a modified neck dissection. Progress was favorable; the patient recovered ocular motility and his vision improved to 20/200. The final biopsy result was “malignant peripheral nerve sheath tumor, malignant schwannoma.” Malignant schwannoma of the peripheral nerve is extremely rare. The total resection and reconstruction being completed in one surgery represented a challenge due to the difficulty in obtaining tissues in addition to the necessity of an oncological resection.

Malignant peripheral nerve sheath tumour transformation of histological benign vestibular schwannoma after stereotactic radiosurgery in patients without neurofibromatosis

2021 ◽  
Vol 14 (11) ◽  
pp. e246445
Author(s):  
Orlando De Jesus ◽  
José G Sánchez Jiménez ◽  
George Santiago Quiñones ◽  
Román Vélez
Keyword(s):  
Peripheral Nerve ◽  
Stereotactic Radiosurgery ◽  
Vestibular Schwannoma ◽  
Residual Tumour ◽  
Nerve Sheath Tumour ◽  
Nerve Sheath ◽  
Female Predominance ◽  
History Of ◽  
Mean Time ◽  
Peripheral Nerve Sheath Tumour

Stereotactic radiosurgery (SRS) poses a minimal but important risk for tumour transformation, typically occurring 8–10 years after the treatment. Malignant peripheral nerve sheath tumour (MPNST) is the most common tumour arising from a vestibular schwannoma treated with SRS, with only 14 cases previously reported. We present the fifteenth case and describe its evolution and clinical course. A 56-year-old man without a history of neurofibromatosis was diagnosed 9 years prior with a vestibular schwannoma. SRS to the residual tumour was given 3 months later. During the current hospitalisation, he was reoperated where histology confirmed a MPNST. All 15 MPNST cases were analysed, showing a 77% female predominance presenting a malignant transformation at a mean age of 51. The diagnosis was made at a mean time of 74 months after SRS. The mean survival time after diagnosis was 16 months. MPNST arising from benign vestibular schwannoma after SRS treatment is an uncommon but devastating complication.

Abstract P350: The Link Between Cognitive Function and Cause-specific Mortality in US Adults

Circulation ◽  
2020 ◽  
Vol 141 (Suppl_1) ◽  
Author(s):  
Sanaz Sedaghat ◽  
Behnam SABAYAN ◽  
Farzaneh A Sorond ◽  
Mercedes R Carnethon
Keyword(s):  
Cognitive Function ◽  
Sex Education ◽  
Cardiovascular Mortality ◽  
Smoking History ◽  
Inverse Association ◽  
Cognitive Domains ◽  
Health And Nutrition ◽  
History Of ◽  
Mortality Table

Introduction: Multiple studies demonstrated an independent and inverse association between cognitive function and mortality but little is known about the cause of death. Hypothesis: We hypothesized that lower cognitive function is related to higher mortality risk and this association is stronger for cardiovascular related deaths. Methods: We included 5569 persons (mean[SE] age 71[0.05], 52% women), from the Third National Health and Nutrition Examination Survey (NHANES III) with available cognitive function measurements and mortality follow-up. Cognitive domains include orientation, attention, immediate and delayed memory as well as global cognition. We used weighted Cox proportional regression models adjusted for age, sex, education, systolic and diastolic blood pressure, body mass index, smoking, history of diabetes and cardiovascular disorders. Results: During an average follow-up of 12 years, 1887 participants died from cardiovascular causes and 2675 died from non-cardiovascular causes. Each SD lower global cognitive performance (SD=6) was related to a 1.11 (95% CI: 1.05, 1.17) higher hazard of all-cause mortality. The associations were more prominent with cardiovascular mortality than with non- cardiovascular mortality (Table). Conclusion: Cognitive impairment in the absence of manifest dementia is an important independent predictor of mortality, in particular from cardiovascular causes.

Assessing the Motor Unit with Needle Electromyography

2009 ◽  
pp. 403-450 ◽  
Author(s):  
Devon I. Rubin
Keyword(s):  
Neuromuscular Junction ◽  
Peripheral Nerve ◽  
Motor Unit ◽  
Neuromuscular Diseases ◽  
Electric Activity ◽  
Great Sensitivity ◽  
Muscle Disease ◽  
Fine Needle ◽  
Needle Electromyography ◽  
Clinical Measures

Virtually all primary neuromuscular diseases result in changes in the electric activity recorded from muscle fibers. These changes can best be depicted using fine needle electrodes inserted into the muscle to record spontaneous and voluntary EMG. Thus, EMG can be used to distinguish among lower motor neuron, peripheral nerve, neuromuscular junction, and muscle disease with great sensitivity and some specificity. The sensitivity is usually greater than clinical measures; specificity in identifying the cause of the disease often requires muscle biopsy or other clinical measures. Although EMG is somewhat uncomfortable for patients because needles need to be inserted into the muscles, it generally is well tolerated by patients and provides a rapid, efficient means of testing the motor unit.

scholarly journals B-02 Neuropsychological Deficits Following Right Hemisphere Cerebrovascular Accidents in a Patient with Human Immunodeficiency Virus, Hepatitis C, and Polysubstance Abuse

2019 ◽  
Vol 34 (6) ◽  
pp. 945-946
Author(s):  
A Olzmann ◽  
A Inscore
Keyword(s):  
Neuropsychological Assessment ◽  
Verbal Memory ◽  
Right Hemisphere ◽  
Neuropsychological Deficits ◽  
Complex Patients ◽  
Immunodeficiency Virus ◽  
History Of ◽  
Polysubstance Abuse ◽  
Patient’S History ◽  
Neuropsychological Impairments

Abstract Objective In right hemisphere cerebrovascular accident (CVA), expected deficits might include inattention syndromes, visuospatial impairment, or neglect. This case study adds to the literature by presenting neuropsychological data from a patient with a complex medical history who experienced two right hemisphere CVAs. The aim is to demonstrate that neuropsychological deficits following CVA may not be as expected in patients with comorbidities, and to highlight the importance of neuropsychological assessment in such cases. Method The patient is a 69-year-old, right-handed, African American man who presented with reading and memory difficulties, problems recognizing faces, and vision impairment following right occipital and temporoparietal ischemic CVAs. Comprehensive neuropsychological evaluation was conducted. Formal measures were utilized, but the examiners were also required to devise appropriate bedside measures. Results The patient had difficulty recognizing his caregiver’s face. He could not identify facial expressions made by examiners, but commented on individual facial features. Design copies were distorted/fragmented, and he evidenced difficulty integrating visual components into a whole. He also demonstrated spelling and verbal memory impairment (BDAE Oral Spelling raw = 0; HVLT-R recall and recognition < 1st percentile). Full results are included in a supplemental data table. Conclusions Results were strongly suggestive of simultanagnosia, though this disorder typically results from bilateral parietal-occipital lesions. Additionally, the neuropsychological impairments noted extended beyond those typical of right hemisphere CVA, likely related to the patient’s history of multiple comorbidities (e.g., infectious disease, polysubstance abuse). This case highlights the importance of neuropsychological assessment in the care of medically complex patients, and the unique ability of neuropsychologists to conduct such evaluations.

scholarly journals A Patient with Double-Negative VGKC, Peripheral Nerve Hyperexcitability, and Central Nervous System Symptoms: A Postinfectious Autoimmune Disease

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Birte Eikeland
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Autoimmune Disease ◽  
Peripheral Nerve ◽  
Skin Lesions ◽  
Double Negative ◽  
Pathogenic Potential ◽  
Peripheral Nerve Hyperexcitability ◽  
Systemic Symptoms ◽  
Kinetics Of

Research in the last few years has indicated that most voltage-gated potassium channel- (VGKC-) complex antibodies without leucine-rich glioma-inactivated protein 1 or contactin-associated protein-like 2 antibody specificity lack pathogenic potential and are not clear markers for autoimmune inflammation. Here we report on a patient with double-negative VGKC who developed severe peripheral nerve hyperexcitability, central nervous system symptoms with agitation and insomnia, dysautonomia, and systemic symptoms with weight loss, itch, and skin lesions. The disease started acutely one month after an episode of enteroviral pericarditis and responded well to immunotherapy. The patient is presumed to have developed a postinfectious immunotherapy-responsive autoimmune disease. In the setting of anti-VGKC positivity, it seems likely that anti-VGKC contributed to the pathogenesis of the patient’s symptoms of nerve hyperexcitability and that the disease was caused by an acquired autoimmune effect on the neuronal kinetics of VGKC. It is still unknown whether or not there are unidentified extracellular molecular targets within the VGKC-complex, i.e., a novel surface antigen and a pathogenic antibody that can cause affected individuals to develop a peripheral nerve hyperexcitability syndrome. This case highlights the fact that less well-characterized autoimmune central and peripheral nervous system syndromes may have infectious triggers.

scholarly journals A-146 A Comparison of Neuropsychological Assessment Results and Self-Reported Cognitive Deficits in Traumatic Brain Injury Patients with Variable Neurocognitive Impairment Severity

2020 ◽  
Vol 35 (6) ◽  
pp. 940-940
Author(s):  
Coddaire K ◽  
Peyton L ◽  
Powell J ◽  
Virden T
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Executive Functioning ◽  
Neuropsychological Assessment ◽  
Cognitive Deficits ◽  
Neurocognitive Impairment ◽  
Self Report ◽  
Neurocognitive Deficits ◽  
Cognitive Domains ◽  
The Relationship

Abstract Objective This study aimed to determine the relationship between symptom self-report accuracy and objective cognitive functioning in multiple cognitive domains for varying neurocognitive impairment (NCI) subsequent to Traumatic Brain Injury (TBI). Specifically, the discrepancy between self-report and objective findings among participants with mild, moderate, and severe NCI was examined within the cognitive domains of Attention, Executive Functioning, Learning/Memory, and Speech/Language. Method The sample included archival data consisting of neuropsychological scores and self-reported Ruff Neurobehavioral Inventory (RNBI) results of 135 adult TBI patients with mild, moderate, or severe NCI who received neuropsychological assessment at a private practice. Patients were grouped based on level of impairment using Halstead Impairment Index criteria. Results No main effect was found for Attention. Patients with severe NCI had greater discrepancies in Executive Functioning (p = 0.015), Learning/Memory (p = 0.015), and Speech/Language (p &lt; 0.001) function, when compared to those with mild NCI. Additionally, patients with severe NCI demonstrated greater discrepancies in Speech/Language (p &lt; 0.001) function when compared to those with moderate NCI. Conclusion These findings indicate as severity of neurocognitive impairment increases for TBI patients, self-reported cognitive symptomatology—specifically executive functioning, learning/memory, and speech/language—will become less accurate. Clinically, these findings suggest that when working with patients who have severe neurocognitive deficits subsequent to TBI, it is important to consider objective testing as self-reporting may not be accurate. Understanding patient’s genuine deficits will foster patient awareness and acceptance of TBI-related cognitive deficits with increased investment in treatment and improved neurorehabilitation outcomes.

Sign in / Sign up

Export Citation Format

Share Document