Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study
Sign Up to like & getrecommendations! Published in 2020 at "Neuroradiology"
DOI: 10.1007/s00234-020-02501-0
Abstract: 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… read more here.
Keywords: disability; cord; brain; cord involvement ... See more keywords
Posterior reversible encephalopathy syndrome with spinal cord involvement (PRES-SCI) as a rare complication of severe diabetic ketoacidosis: a case report and review of the literature
Sign Up to like & getrecommendations! Published in 2018 at "Child's Nervous System"
DOI: 10.1007/s00381-018-3724-y
Abstract: IntroductionIn addition to diffuse brain oedema, diabetic ketoacidosis (DKA) can lead to ischaemic or haemorrhagic stroke, extrapontine myelinolysis, and sinovenous thrombosis. However, posterior reversible encephalopathy syndrome (PRES) and spinal cord oedema are rarely reported in… read more here.
Keywords: cord; complication; case; cord involvement ... See more keywords
Spinal cord involvement in Leigh syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.04.003
Abstract: We read with interest the article by Miyauchi et al. about an 11yo male with Leigh-syndrome (LS) due a mutation in the NDUFA1 gene manifesting not only in the brain but also the spinal cord… read more here.
Keywords: leigh syndrome; cord; cord involvement; mutation ... See more keywords
Characteristics of isolated spinal cord involvement in neurobrucellosis with no corresponding MRI activity: A case report and review of the literature
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2016.11.076
Abstract: Brucellosis is the most common zoonotic infection that affects camels, sheep, and goats as primary hosts and humans as secondary hosts [1,2]. Brucellosis is transmitted through the consumption of uncooked meat or unpasteurized dairy products… read more here.
Keywords: isolated spinal; cord involvement; review; spinal cord ... See more keywords
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
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DOI: 10.1038/s10038-021-00921-1
Abstract: Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named "infantile-onset transient hypomyelination". Clinical and neuroradiological presentation is described as highly similar to Pelizaeus-Merzbacher Disease but evolution over time… read more here.
Keywords: onset transient; infantile onset; cord involvement; transient hypomyelination ... See more keywords
Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0039-1679911
Abstract: Abstract Leukodystrophies are heterogeneous group of genetic white matter disorders with a wide range of neurologic and systemic manifestations. Defects in genes encoding aminoacyl tRNA (transfer ribonucleic acid) synthetase enzymes (aaRSs) are recently identified as… read more here.
Keywords: hypomyelinating leukodystrophy; cord; two unrelated; cord involvement ... See more keywords
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report
Sign Up to like & getrecommendations! Published in 2018 at "BMC Neurology"
DOI: 10.1186/s12883-018-1180-7
Abstract: BackgroundLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column.… read more here.
Keywords: brainstem spinal; involvement lactate; lactate elevation; cord involvement ... See more keywords
Posterior Reversible Encephalopathy Syndrome With Spinal Cord Involvement 2 Months After a Burn Injury
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000200731
Abstract: A 20-year-old woman with burns (41% surface area) presented 2 months later with blurry vision, neurogenic bladder, weakness, and new hypertension. Examination revealed bilateral cotton wool spots and macular edema. MRI showed nonenhancing, edematous lesions… read more here.
Keywords: reversible encephalopathy; syndrome spinal; encephalopathy syndrome; cord involvement ... See more keywords
Spinal Cord Involvement in MS and Other Demyelinating Diseases
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DOI: 10.3390/biomedicines8050130
Abstract: Diagnostic accuracy is poor in demyelinating myelopathies, and therefore a challenge for neurologists in daily practice, mainly because of the multiple underlying pathophysiologic mechanisms involved in each subtype. A systematic diagnostic approach combining data from… read more here.
Keywords: involvement demyelinating; cord involvement; demyelinating diseases; spinal cord ... See more keywords