scholarly journals Spinal Cord Involvement in Pediatric-Onset Metabolic Disorders With Mendelian and Mitochondrial Inheritance

2021 ◽  
Vol 8 ◽  
Author(s):  
Brahim Tabarki ◽  
Wejdan Hakami ◽  
Nader Alkhuraish ◽  
Kalthoum Tlili-Graies ◽  
Majid Alfadhel
Keyword(s):  
Spinal Cord ◽  
Genetic Counseling ◽  
Metabolic Disorders ◽  
Clinical Laboratory ◽  
Rapid Identification ◽  
Background Information ◽  
Mitochondrial Inheritance ◽  
Spinal Cord Involvement ◽  
Brain Involvement ◽  
Pediatric Onset

Previous reviews have described the features of brain involvement in pediatric-onset metabolic disorders with Mendelian and mitochondrial inheritance, but only a few have focused on spinal cord abnormalities. An increasing number of metabolic disorders with Mendelian and mitochondrial inheritance in children with predominant spinal cord involvement has been recognized. Spinal cord involvement may be isolated or may occur more frequently with brain involvement. Timely diagnosis and occasional genetic counseling are needed for timely therapy. Therefore, clinicians must be aware of the clinical, laboratory, and radiographic features of these disorders. In this review, we describe pediatric-onset metabolic disorders with Mendelian and mitochondrial inheritance and predominant spinal cord involvement. Furthermore, we provide an overview of these conditions, including background information and examples that require rapid identification, focusing on treatable conditions; that would be catastrophic if they are not recognized.

scholarly journals The Relationships among MRI-Defined Spinal Cord Involvement, Brain Involvement, and Disability in Multiple Sclerosis

2011 ◽  
Vol 22 (2) ◽  
pp. 122-128 ◽  
Author(s):  
Adam B. Cohen ◽  
Mohit Neema ◽  
Ashish Arora ◽  
Elisa Dell’Oglio ◽  
Ralph H. B. Benedict ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Spinal Cord ◽  
Spinal Cord Involvement ◽  
Brain Involvement

Spinal cord involvement in Behçet’s disease

2015 ◽  
Vol 22 (7) ◽  
pp. 960-963 ◽  
Author(s):  
Hyung Seok Lee ◽  
Do Young Kim ◽  
Ha Young Shin ◽  
Young-Chul Choi ◽  
Seung Min Kim
Keyword(s):  
Spinal Cord ◽  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Clinical Laboratory ◽  
Age Of Onset ◽  
Behçet's Disease ◽  
Transverse Myelitis ◽  
Behcet's Disease ◽  
Spinal Cord Involvement ◽  
Imaging Characteristics

Background: Spinal cord involvement in Behçet’s disease is not well studied. Objective: To evaluate the clinical, laboratory and magnetic resonance imaging characteristics of spinal cord involvement in Behçet’s disease. Methods: We retrospectively reviewed 10 spinal cord involvements in seven patients with Behçet’s disease. Results: The median age of onset for spinal cord involvement was 32 (23–45 years). Two patients showed a secondary progressive course. Cerebrospinal fluid findings revealed mild to moderate pleocytosis and/or elevated protein levels. In eight spinal cord involvements, the lesion was longer than three vertebrae. Serum anti-aquaporin-4 antibody was negative in all four patients tested. Conclusions: Longitudinally extensive transverse myelitis is a characteristic manifestation of spinal cord involvement in Behçet’s disease.

scholarly journals Spectrum of spinal cord involvement in COVID-19: A systematic review

2020 ◽  
Author(s):  
Ritwick Mondal ◽  
Shramana Deb ◽  
Gourav Shome ◽  
Upasana Ganguly ◽  
Durjoy Lahiri ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Clinical Laboratory ◽  
Case Reports ◽  
Transverse Myelitis ◽  
Systemic Review ◽  
Cochrane Library ◽  
Imaging Data ◽  
Spinal Cord Involvement ◽  
Imaging Characteristics ◽  
Post Infectious

Background and aims- Recent reports reveal incidences of spinal cord involvement in form of para-infectious or post-infectious myelitis raising potential concerns about the possibilities of SARS-CoV-2 behind the pathogenesis of spinal cord demyelination. In this study, we intend to summarise so far available pieces of evidence documenting SARS-CoV-2 mediated spinal demyelination in terms of clinical, laboratory parameters and imaging characteristics. Methodology- This review was carried out based on the existing PRISMA (Preferred Report for Systemic Review and Meta-analyses) consensus statement. Data was collected from four databases: Pubmed/Medline, NIH Litcovid, Embase and Cochrane library and Preprint servers up till 10th September, 2020. Search strategy comprised of a range of keywords from relevant medical subject headings which includes "SARS-COV-2", "COVID-19", "demyelination" etc. Results- A total of 21 cases were included from 21 case reports after screening from various databases and preprint servers. Biochemical analysis reveals that the majority of cases showed elevated CSF protein as well as lymphocytic pleocytosis. Interestingly, a majority of cases were found to be associated with long extensive transverse myelitis (LETM), and remaining cases were found to be associated with isolated patchy involvement or isolated short segment involvement or combined LETM and patchy involvement. Few cases were also found with significant co-involvement of the brain and spine based on the imaging data. Conclusion- It can be interpreted that SARS-CoV-2 may play a potential role in spinal demyelinating disorders in both para-infectious and post-infectious forms.

scholarly journals Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

2020 ◽  
Vol 62 (10) ◽  
pp. 1315-1321 ◽  
Author(s):  
Pasquini Luca ◽  
Guarnera Alessia ◽  
Rossi-Espagnet Maria Camilla ◽  
Napolitano Antonio ◽  
Martinelli Diego ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Gray Matter ◽  
Brain Mri ◽  
Spinal Disease ◽  
Spinal Cord Lesions ◽  
Chi Square ◽  
Disability Score ◽  
Spinal Cord Involvement ◽  
Chi Square Test ◽  
Brain Involvement

Abstract Purpose Spinal cord involvement in Kearns-Sayre (KSS) syndrome could be more frequent than commonly thought. Our aims were to evaluate the involvement of the spinal cord in patients with KSS by means of MRI and to investigate possible correlations of spinal and brain disease with patient disability. Methods Eleven patients with KSS disease and spinal cord MRI were retrospectively recruited. The severity of spinal disease was defined as follows: grade 0 (none), grade 1 (focal), and grade 2 (extensive). We calculated a radiologic score of brain involvement based on typical features. We performed a chi-square test to correlate spinal cord and brain MRI involvement to patient disability. For significant variables, a contingency coefficient, phi factor, and Cramer’s V were also computed. Results Spinal cord lesions were detected in 6/11 patients, showing four patterns: involvement of gray matter, gray matter and posterior columns, posterior columns, and anterior columns. The severity of spinal disease was grade 1 in two and grade 2 in four patients. All patients showed brain involvement (9-point average for patients with spinal involvement and 10 for the others). A significant correlation was found between disability score and spinal cord involvement (χ2 = 7.64; p = 0.022) or brain score (χ2 = 26.85; p = 0.043). Significance for brain score-disability correlation increased with the spinal cord as a cofactor (χ2 = 24.51; p = 0.017, phi factor = 1.201, Cramer’s V = 0.849, contingency effect = 0.767; p = 0.017). Conclusion Spinal cord lesions are common in KSS. Patients with spinal disease show higher disability than patients without spinal cord lesions, supporting the inclusion of dedicated acquisitions to routine MRI of the brain in patients with KSS.

Frequency of Spinal Cord Involvement and Autoantibody Status in a Large Cohort of Children Presenting with a First Acute Demyelinating Syndrome

2019 ◽  
Author(s):  
Ines El Naggar ◽  
Eva-Maria Wendel ◽  
Christian Lechner ◽  
Kathrin Schanda ◽  
Michael Karenfort ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Large Cohort ◽  
Spinal Cord Involvement ◽  
Autoantibody Status

Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation

2021 ◽  
Author(s):  
Davide Tonduti ◽  
Eleonora Mura ◽  
Silvia Masnada ◽  
Enrico Bertini ◽  
Chiara Aiello ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Involvement

Evaluation of methods for the rapid identification of Neisseria gonorrhoeae in a routine clinical laboratory

1976 ◽  
Vol 4 (1) ◽  
pp. 19-21
Author(s):  
H M Pollock
Keyword(s):  
Neisseria Gonorrhoeae ◽  
Clinical Laboratory ◽  
Fluorescent Antibody ◽  
Rapid Identification ◽  
Reliable Identification ◽  
Initial Trial ◽  
Carbohydrate Degradation ◽  
Routine Clinical Laboratory ◽  
Evaluation Of Methods ◽  
Produce Acid

Of 78 isolates of Neisseria gonorrhoeae, 21 failed to grow and produce acid in unsupplemented cystine-Trypticase agar (CTA); whereas positive reactions were obtained by using serum-supplemented CTA and fluorescent antibody (FA). An additional 290 strains of Neisseria were evaluated by FA and by a rapid carbohydrate degradation technique (RF). There was agreement between the two methods 92% of the time on the initial trial and 99% of the time with repeats on discrepancies. The RF and FA tests provided rapid and reliable identification of N. gonorrhoeae, alleviating the problems of CTA due to lack of growth and need for overnight incubation.

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