MOTOR NEURON DISEASE: A CASE OF MISGUIDED THERAPEUTIC NIHILISM

2015 ◽  
Vol 86 (11) ◽  
pp. e4.124-e4 ◽  
Author(s):  
Alexander Rossor ◽  
Dragana Josifova ◽  
Robin Howard ◽  
Alifa IsaacsItua
Keyword(s):  
Hearing Loss ◽  
Nursing Home ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Case Series ◽  
Missense Mutations ◽  
Facial Weakness ◽  
The Family ◽  
Peg Tube ◽  
Bilateral Deafness

We report the case of a 62 year old gentleman with sensorineuronal hearing loss beginning in the second decade. At the age of 40 he collapsed and was unable to walk more than a few metres. He was admitted to hospital and diagnosed with a motor neuron disease on the basis of an EMG. Examination at the time revealed bilateral deafness, facial weakness, dysphagia, dysphonia and both proximal and distal weakness.The family history was remarkable for two sisters who died of a similar condition in the second decade. In view of the combination of sensory neuronal deafness and a motor neuronopathy, a diagnosis of Brown Violetta Van Laera (BVVL) syndrome was made.A PEG tube was inserted and the patient was discharged to a nursing home for palliation. After several months, our patient discharged himself, reintroduced thickened fluids resulting in removal of the PEG tube. His clinical condition has continued to improve although he intermittently requires a wheelchair.Genetic testing of the SLC52A3 gene revealed two missense mutations (p.Glu36Lys and p.Val413Ala) confirming the clinical diagnosis of BVVL. SLC52A3 encodes a riboflavin transporter and in case series, riboflavin supplementation has halted or reversed the disease.

scholarly journals ALS-Like Disorder in Three HIV-Positive Patients: Case Series

2021 ◽  
pp. 59-64
Author(s):  
Zachary Aaron Satin ◽  
Elham Bayat
Keyword(s):  
Antiretroviral Therapy ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Motor Neurons ◽  
Case Series ◽  
Retrospective Chart Review ◽  
Effective Control ◽  
Hiv Positive ◽  
Disease Course ◽  
Retroviral Infection

There appears to be a relationship between retroviruses such as HIV and the development of an ALS-like syndrome. Few cases have been reported; however, there exists evidence of a higher frequency of motor neuron disease in HIV-infected patients, as well as potential slowing and reversibility of disease course with combination antiretroviral therapy. We conducted a retrospective chart review of patients presenting to the George Washington University ALS Clinic from September 2006 to June 2018 to identify patients with HIV receiving HAART who were subsequently diagnosed with ALS or an ALS-like disorder. Our goals were to describe our patients’ disease course and compare them to general characteristics of ALS. We report three cases of HIV-positive individuals, all male, who were subsequently diagnosed with ALS. Each presented with symptoms of limb onset ALS with involvement of upper and lower motor neurons and whose disease originated at the cervical level. All three had been diagnosed with HIV prior to presentation and were presumably compliant with antiretroviral therapy throughout. Our patients demonstrated effective control of their HIV infection. Each experienced relatively slow progression of motor impairment compared to general ALS characteristics. Our study offers a distinct profile of HIV-positive patients compliant with HAART subsequently diagnosed with an ALS-like disorder. Further study should aim to uncover pathophysiological similarities between motor neuron disease both in the presence and absence of retroviral infection and to develop effective medical therapy for each.

scholarly journals Motor neuron disease in a young female, Madras pattern or Brown-Vialetto Van Laere syndrome? - A diagnostic dilemma

2015 ◽  
Vol 1 (6) ◽  
pp. 267
Author(s):  
Venkata Durga Sasishekar T ◽  
Sai Krishna Y ◽  
Sathya Sahi A ◽  
Keerthi Vyas
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Similar Pattern ◽  
Neurological Disorder ◽  
South India ◽  
Young Female ◽  
Unknown Etiology ◽  
Diagnostic Dilemma ◽  
Distal Muscle ◽  
Bilateral Deafness

<p class="abstract">We report a case of a 14 year old female patient with progressive ponto-bulbar palsy, bilateral deafness and distal muscle weakness with wasting. This pattern is seen in Brown-Vialetto-Van Laere which is an extremely rare neurological disorder of unknown etiology with less than 80 cases being reported till date. The syndrome was first described in 1894 by Brown and subsequently by Vialetto in 1936 and Van Laere in 1966. A similar pattern is noted in the Madras form of motor neuron disease which is seen in South India. With the available literature and data it's difficult to differentiate between these entities.</p>

A 72-Year-Old Female with Facial Weakness and Droopy Eyelids

2016 ◽  
Author(s):  
Jeffrey A. Cohen ◽  
Justin J. Mowchun ◽  
Victoria H. Lawson ◽  
Nathaniel M. Robbins
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Facial Weakness ◽  
Antibody Testing ◽  
Brainstem Stroke ◽  
Incorrect Diagnosis ◽  
Laboratory Examinations ◽  
The Brain ◽  
Specific Sequences ◽  
Rule Out

Fatigable weakness is the hallmark of myasthenia gravis (MG). It may present with false localizing signs leading to an itinal incorrect diagnosis of a brainstem stroke. MRI scanning of the brain with specific sequences can rule out the diagnosis of stroke. Differential diagnosis of MG may also include also motor neuron disease. Electromyography is very helpful in confirming the diagnosis of motor neuron disease. The two major diseases of the neuromuscular junction are MG and Lambert-Eaton syndrome (LEMS). A table presents the differing characteristics of each. LEMS can be associated with malignancy and MG with thyoma. Laboratory examinations have greatly assisted in differentiating these two conditions. There is specific antibody testing for each condition. Repetitive stimulation and single fiber electromyography also improve diagnostic acumen.

Music-assisted relaxation during transition to non-invasive ventilation in people with motor neuron disease: A qualitative case series

2016 ◽  
Vol 30 (2) ◽  
pp. 74-82
Author(s):  
Rebecca Davies ◽  
Felicity A Baker ◽  
Jeanette Tamplin ◽  
Eleanor Bajo ◽  
Karen Bolger ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Case Series ◽  
Invasive Ventilation ◽  
Non Invasive ◽  
Non Invasive Ventilation

scholarly journals The Natural History of Facial Schwannomas: A Meta-Analysis of Case Series

2018 ◽  
Vol 80 (05) ◽  
pp. 458-468 ◽  
Author(s):  
Matthew Bartindale ◽  
Jeffrey Heiferman ◽  
Cara Joyce ◽  
Neelam Balasubramanian ◽  
Douglas Anderson ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Facial Nerve ◽  
Meta Analysis ◽  
Case Series ◽  
Tumor Location ◽  
Tumor Diameter ◽  
Facial Weakness ◽  
Nerve Segment ◽  
Level Data ◽  
History Of

Abstract Objective This study is to establish predictors of facial paralysis and auditory morbidity secondary to facial schwannomas by assimilating individualized patient data from the literature. Design A systematic review of the literature was conducted for studies regarding facial schwannomas. Studies were only included if they presented patient level data, House–Brackmann grades, and tumor location by facial nerve segment. Odds ratios (OR) were estimated using generalized linear mixed models. Main Outcome Measures Facial weakness and hearing loss. Results Data from 504 patients were collected from 32 studies. The geniculate ganglion was the most common facial nerve segment involved (39.3%). A greater number of facial nerve segments involved was positively associated with both facial weakness and hearing loss, whereas tumor diameter did not correlate with either morbidity. Intratemporal involvement was associated with higher odds of facial weakness (OR = 4.78, p < 0.001), intradural involvement was negatively associated with facial weakness (OR = 0.56, p = 0.004), and extratemporal involvement was not a predictor of facial weakness (OR = 0.68, p = 0.27). The odds of hearing loss increased with more proximal location of the tumor (intradural: OR = 3.26, p < 0.001; intratemporal: OR = 0.60, p = 0.14; extratemporal: OR = 0.27, p = 0.01). Conclusion The most important factors associated with facial weakness and hearing loss are tumor location and the number of facial nerve segments involved. An understanding of the factors that contribute most heavily to the natural morbidity can help guide the appropriate timing and type of intervention in future cases of facial schwannoma.

Flail arm syndrome with motor neuron disease rapidly progressing to respiratory failure: a case series and clinical analysis

2010 ◽  
Vol 17 (9) ◽  
pp. e90-e91 ◽  
Author(s):  
H. Kataoka ◽  
T. Kiriyama ◽  
T. Kitauti ◽  
M. Kawahara ◽  
K. Sugie ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Case Series ◽  
Clinical Analysis

Motor neuron disease in sub-Saharan Africa: case series from a Tanzanian referral hospital

2018 ◽  
Vol 89 (12) ◽  
pp. 1349-1350 ◽  
Author(s):  
Marieke Cornelia Johanna Dekker ◽  
Sarah Japhet Urasa ◽  
Marjolein Berendina Aerts ◽  
William P Howlett
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Case Series ◽  
Referral Hospital ◽  
Sub Saharan Africa ◽  
Sub Saharan

scholarly journals Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS–FTD-linked UBQLN2 mutations

2016 ◽  
Vol 113 (47) ◽  
pp. E7580-E7589 ◽  
Author(s):  
Nhat T. T. Le ◽  
Lydia Chang ◽  
Irina Kovlyagina ◽  
Polymnia Georgiou ◽  
Nathaniel Safren ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Motor Neurons ◽  
Hippocampal Neurons ◽  
Missense Mutations ◽  
Spinal Motor Neurons ◽  
Stage Disease ◽  
End Stage ◽  
Brain And Spinal Cord ◽  
The Brain

Missense mutations in ubiquilin 2 (UBQLN2) cause ALS with frontotemporal dementia (ALS–FTD). Animal models of ALS are useful for understanding the mechanisms of pathogenesis and for preclinical investigations. However, previous rodent models carrying UBQLN2 mutations failed to manifest any sign of motor neuron disease. Here, we show that lines of mice expressing either the ALS–FTD-linked P497S or P506T UBQLN2 mutations have cognitive deficits, shortened lifespans, and develop motor neuron disease, mimicking the human disease. Neuropathologic analysis of the mice with end-stage disease revealed the accumulation of ubiquitinated inclusions in the brain and spinal cord, astrocytosis, a reduction in the number of hippocampal neurons, and reduced staining of TAR-DNA binding protein 43 in the nucleus, with concomitant formation of ubiquitin+ inclusions in the cytoplasm of spinal motor neurons. Moreover, both lines displayed denervation muscle atrophy and age-dependent loss of motor neurons that correlated with a reduction in the number of large-caliber axons. By contrast, two mouse lines expressing WT UBQLN2 were mostly devoid of clinical and pathological signs of disease. These UBQLN2 mouse models provide valuable tools for identifying the mechanisms underlying ALS–FTD pathogenesis and for investigating therapeutic strategies to halt disease.

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