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Subacute combined degeneration

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https://www.readbyqxmd.com/read/27905001/guidelines-for-diagnosis-and-management-of-the-cobalamin-related-remethylation-disorders-cblc-cbld-cble-cblf-cblg-cblj-and-mthfr-deficiency
#1
Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R Baumgartner, Carlo Dionisi-Vici
BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. OBJECTIVE: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. DATA SOURCES: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach...
November 30, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27854092/nitrous-oxide-induced-subacute-combined-degeneration-presenting-with-dystonia-and-pseudoathetosis-a-case-report
#2
Hung-Ju Chen, Chih-Shan Huang
PURPOSE: Nitrous oxide (N2O) is neurotoxic by interfering with vitamin B12 bioavailability. The clinical picture is indistinguishable to that of subacute combined degeneration (SCD). A movement disorder might occur though it is not a characteristic feature. We report a patient with N2O-induced SCD, exhibiting a combination of different involuntary movements. CASE REPORT: A 20-year-old woman presented with one month of progressive unsteady gait, involuntary movements and tingling sensation in a stocking-glove distribution...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27645757/copper-deficiency-myelopathy-probably-caused-by-long-lasting-daily-excessive-intake-of-zink
#3
Rieko Motooka, Shinji Yamamoto
We report a 39-year-old woman with slowly progressive spastic gait and paresthesia in the lower extremities. Cervical spinal MRI revealed high intensity in the dorsal column from vertebrae C2 to C7. Laboratory findings showed normal vitamin B12 and low serum copper level. By lifestyle history taking, we noticed her extreme unbalanced diet of having 15-20 oysters everyday over 5 years. Then we considered that zinc excess caused copper deficiency myelopathy. We needed to pay attention to copper and zinc level if the patient has a symptom resembling subacute combined degeneration of spinal cord with normal serum vitamin B12...
September 16, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27526974/etiological-clinical-and-radiological-features-of-longitudinally-extensive-myelopathy-in-chinese-patients
#4
Weihe Zhang, Yujuan Jiao, Lei Cui, Lei Liu, Linwei Zhang, Jinsong Jiao
Longitudinally extensive myelopathy (LEM) is a rare spinal syndrome, and was mostly assessed in western populations. In order to investigate the etiological, clinical, and radiological features of LEM in Chinese patients, we retrospectively analyzed eighty-nine (40 men and 49 women, median age 45.9±15.7years) patients with LEM hospitalized in China-Japan Friendship Hospital. LEM comprised autoimmune inflammatory myelitis (n=53), metabolic and compressive disorders (n=13), vascular diseases (n=10), neoplastic diseases (n=7), infectious diseases (n=4), and syringomyelia (n=2)...
October 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27473652/vitamin-b12-deficiency-presenting-with-neurological-dysfunction-in-an-adolescent
#5
Coral M Stredny, Olivia Frosch, Samata Singhi, Elissa Furutani, Adam D Durbin, Rachael F Grace, Nicole J Ullrich
BACKGROUND: Vitamin B12 deficiency is classically encountered in the adult Caucasian population and manifests as a subacute combined degeneration in the presence or absence of macrocytic anemia. However, B12 deficiency is extremely rare in children in developed countries, and pernicious anemia is even rarer etiology of this deficiency. The clinical presentation of B12 deficiency in children is not as easily recognizable or well-characterized and may result in missed or delayed diagnosis...
September 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27348743/longitudinally-extensive-transverse-myelitis-a-retrospective-analysis-of-sixty-four-patients-at-tertiary-care-center-of-north-west-india
#6
Rajendra Singh Jain, Sunil Kumar, Tarun Mathur, Shankar Tejwani
OBJECTIVES: To evaluate the demographic profile, clinical presentations, laboratory parameters and etiologies of longitudinally extensive transverse myelitis (LETM) patients in Indian population. PATIENTS AND METHODS: LETM is characterized by contiguous inflammatory lesions of spinal cord extending to three or more vertebral segments. Neuromyelitis optica (NMO) is the most common cause of LETM. In clinical practice, both LETM and NMO are thought to be synonymous with each other because of their very frequent association...
September 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27293327/approach-to-a-case-of-myeloneuropathy
#7
Ravindra Kumar Garg, Hardeep Singh Malhotra, Neeraj Kumar
Myeloneuropathy is a frequently encountered condition and often poses a diagnostic challenge. A variety of nutritional, toxic, metabolic, infective, inflammatory, and paraneoplastic disorders can present with myeloneuropathy. Deficiencies of vitamin B12, folic acid, copper, and vitamin E may lead to myeloneuropathy with a clinical picture of subacute combined degeneration of the spinal cord. Among infective causes, chikungunya virus has been shown to produce a syndrome similar to myeloneuropathy. Vacuolar myelopathy seen in human immunodeficiency virus (HIV) infection is clinically very similar to subacute combined degeneration...
April 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27056859/-treatable-dementia-due-to-vitamin-b12-and-folate-deficiency
#8
REVIEW
Toshihiro Yoshizawa
Vitamin deficiency is one of the major causes of treatable dementia. Specifically, patients suffering from dementia frequentry display low serum levels of vitamin B(12). There is a close metabolic interaction between folate and vitamin B(12). Folate deficiency causes various neuropsychiatric symptoms, which resemble those observed in vitamin B(12) deficiency. This review summarizes, the basic pathophysiology of vitamin B(12) and folate deficiency, its clinical diagnosis, associated neuropsychiatric symptoms such as subacute combined degeneration and dementia, and epidemiological studies of cognitive decline and brain atrophy...
April 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27037733/neurologic-psychiatric-and-other-medical-manifestations-of-nitrous-oxide-abuse-a-systematic-review-of-the-case-literature
#9
REVIEW
Amir Garakani, Robert J Jaffe, Dipal Savla, Alison K Welch, Caroline A Protin, Ethan O Bryson, David M McDowell
BACKGROUND/OBJECTIVES: Nitrous oxide (N2 O) is known to have abuse potential, although debate regarding the toxic effects of such abuse continues. Our objective was to review the case literature and present the neurologic, psychiatric and medical consequences of N2 O abuse. METHODS: A systematic literature review was completed for case reports using keywords "nitrous oxide" with "abuse/abusing" or "misuse/misusing" or "overuse/overusing" or "addiction." Non-English-language cases and cases not involving direct toxic effects of N2 O were excluded as were commentaries or personal essays...
August 2016: American Journal on Addictions
https://www.readbyqxmd.com/read/27009308/the-difficulties-with-vitamin-b12
#10
Ruth Dobson, Debie Alvares
A 22-year-old woman presented with progressive sensory ataxia and optic neuropathy. Previous investigation by her general practitioner had found a low serum vitamin B12, which had been corrected with oral supplementation. Neurological investigations showed raised plasma homocysteine and methylmalonic acid towards the upper limit of normal with a low serum vitamin B12 MRI showed an extensive cord lesion in keeping with subacute combined degeneration of the spinal cord. We treated her with high dose parenteral vitamin B12 and she has made a partial recovery...
August 2016: Practical Neurology
https://www.readbyqxmd.com/read/26982994/clinical-and-epidemiological-profiles-of-non-traumatic-myelopathies
#11
Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza, Marcus Vinícius Cristino de Albuquerque, Lívia Almeida Dutra, José Luiz Pedroso, Orlando Graziani Povoas Barsottini
Non-traumatic myelopathies represent a heterogeneous group of neurological conditions. Few studies report clinical and epidemiological profiles regarding the experience of referral services. Objective To describe clinical characteristics of a non-traumatic myelopathy cohort. Method Epidemiological, clinical, and radiological variables from 166 charts of patients assisted between 2001 and 2012 were compiled. Results The most prevalent diagnosis was subacute combined degeneration (11.4%), followed by cervical spondylotic myelopathy (9...
February 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/26965759/conventional-mri-for-diagnosis-of-subacute-combined-degeneration-scd-of-the-spinal-cord-due-to-vitamin-b-12-deficiency
#12
Cui-Ping Xiao, Cui-Ping Ren, Jing-Liang Cheng, Yong Zhang, Ying Li, Bei-bei Li, Yi-Zhe Fan
Subacute combined degeneration of the spinal cord (SCD) is often found in vitamin B-12 deficiency and typically shows hyperintensity on T2-weighted images of the lateral and posterior columns. The purpose of the study was to evaluate the use of conventional magnetic resonance examination in diagnosing SCD. Thirty-six patients were clinically confirmed and retrospectively analyzed; conventional spine MRIs were available for all patients and eight of them had contrast enhancement MRIs. 19 out of 36 patients showed abnormal signal intensity on T2 weighted images with a sensitivity of 52...
2016: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/26843105/oxidative-stress-markers-in-vitamin-b12-deficiency
#13
Usha Kant Misra, Jayantee Kalita, Sandeep Kumar Singh, Sushil Kumar Rahi
In this study, we report the status of oxidative stress markers in vitamin B12 deficiency and their relation to clinical, laboratory, and neurophysiological findings. Fifty-one subjects with serum vitamin B12 deficiency (<211 pg/ml) were included. Plasma glutathione (GSH), malondialdehyde (MDA) and serum total antioxidant capacity (TAC) were measured in the patients and 53 controls. These markers were also compared between subacute combined degeneration (SACD) and non-SACD vitamin B12 deficiency patients groups as well as with normal controls...
February 3, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/26666889/magnetic-resonance-imaging-based-cerebral-tissue-classification-reveals-distinct-spatiotemporal-patterns-of-changes-after-stroke-in-non-human-primates
#14
Mark J R J Bouts, Susan V Westmoreland, Alex J de Crespigny, Yutong Liu, Mark Vangel, Rick M Dijkhuizen, Ona Wu, Helen E D'Arceuil
BACKGROUND: Spatial and temporal changes in brain tissue after acute ischemic stroke are still poorly understood. Aims of this study were three-fold: (1) to determine unique temporal magnetic resonance imaging (MRI) patterns at the acute, subacute and chronic stages after stroke in macaques by combining quantitative T2 and diffusion MRI indices into MRI 'tissue signatures', (2) to evaluate temporal differences in these signatures between transient (n = 2) and permanent (n = 2) middle cerebral artery occlusion, and (3) to correlate histopathology findings in the chronic stroke period to the acute and subacute MRI derived tissue signatures...
December 15, 2015: BMC Neuroscience
https://www.readbyqxmd.com/read/26489675/nitrous-oxide-abuse-and-vitamin-b12-action-in-a-20-year-old-woman-a-case-report
#15
Miriam Andrea Duque, Jesse L Kresak, Adam Falchook, Neil S Harris
Herein, we report a case of a 20-year-old (ethnicity not reported) woman with a history of nitrous oxide abuse and clinical symptoms consistent with spinal cord subacute combined degeneration with associated low serum concentrations of vitamin B12, elevated methylmalonic acid levels, and radiologic evidence of demyelination of the dorsal region of the spinal column. The health of the patient improved dramatically with B12 supplementation. In this case, we discuss the interaction of nitrous oxide with the enzymatic pathways involved in the biochemistry of vitamin B12...
2015: Laboratory Medicine
https://www.readbyqxmd.com/read/26478128/are-prp-c-s-involved-in-some-human-myelin-diseases-relating-experimental-studies-to-human-pathology
#16
REVIEW
Daniela Veber, Giuseppe Scalabrino
We have experimentally demonstrated that cobalamin (Cbl) deficiency increases normal cellular prion (PrP(C)) levels in rat spinal cord (SC) and cerebrospinal fluid (CSF), and decreases PrP(C)-mRNA levels in rat SC. Repeated intracerebroventricular administrations of anti-octapeptide repeat-PrP(C)-region antibodies to Cbl-deficient (Cbl-D) rats prevent SC myelin lesions, and the administrations of PrP(C)s to otherwise normal rats cause SC white matter lesions similar to those induced by Cbl deficiency. Cbl positively regulates SC PrP(C) synthesis in rat by stimulating the local synthesis of epidermal growth factor (EGF), which also induces the local synthesis of PrP(C)-mRNAs, and downregulating the local synthesis of tumor necrosis factor(TNF)-α, thus preventing local PrP(C) overproduction...
December 15, 2015: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/26474927/white-matter-changes-in-chronic-alcoholic-liver-disease-hypothesized-association-and-putative-biochemical-mechanisms
#17
Leith Hathout, Jimmy Huang, Amir Zamani, Craig Morioka, Suzie El-Saden
Advanced liver disease has long been associated with cerebral abnormalities. These abnormalities, termed acquired hepatocerebral degeneration, are typically visualized as T1 weighted hyperintensity on MRI in the deep gray matter of the basal ganglia. Recent reports, however, have demonstrated that a subset of patients with chronic alcoholic liver disease may also develop white matter abnormalities. Thus far, the morphology of these changes is not well characterized. Previous studies have described these changes as patchy, sporadic white matter abnormalities but have not posited localization of these changes to any particular white matter tracts...
December 2015: Medical Hypotheses
https://www.readbyqxmd.com/read/26435864/a-case-of-subacute-combined-degeneration-of-the-spinal-cord-with-infective-endocarditis
#18
Xiao-Jiang Huang, Jia He, Wen-Sheng Qu, Dai-Shi Tian
Background. Subacute combined degeneration (SCD) is a rare cause of demyelination of the dorsal and lateral columns of spinal cord and is a neurogenic complication due to cobalamin deficiency. Anemia of chronic disease (ACD) occurs in patients with acute or chronic immune activation, including infective endocarditis. It remains to be elucidated whether ACD patients are more sensitive to suffer from SCD. Little cases about SCD patients accompanied with ACD have been reported till now. Here we reported a 36-year-old man with SCD with a medical history of mitral inadequacy over 20 years, who was admitted and transported from another hospital to our hospital due to an 8-month history of gait disturbance, lower limb weakness and paresthesia, and loss of proprioception...
2015: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/26425005/joseph-godwin-greenfield-the-father-of-neuropathology-1884-1958
#19
Kalyan B Bhattacharyya, Saurabh Rai
The systematic study of neuropathology was initiated by Godwin Greenfield in the early part of the 20(th) century. He worked at the National Hospital, Queen Square, London for the major period of his life and worked on various subjects like cerebrospinal fluid, intracranial tumours, cerebellar ataxias, dystrophia myotonica, disseminated sclerosis, subacute combined degeneration of the spinal cord, and the like. After his retirement he visited the National Institute of Neurological Diseases and Blindness in Bethesda, Maryland, USA, from time to time and there he died suddenly from myocardial infarction...
July 2015: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/26311292/subacute-combined-degeneration-of-the-spinal-cord-in-an-adolescent-male-with-avoidant-restrictive-food-intake-disorder-a-clinical-case-report
#20
Jonathan James Chandran, Gail Anderson, Andrew Kennedy, Michael Kohn, Simon Clarke
Avoidant/restrictive food intake disorder (ARFID) is a potentially lethal eating disorder. This case example of a male, G, aged 17 years with ARFID illustrates the multiplicity of health problems related to nutritional deficiencies which may develop in an adolescent of normal weight. Of particular concern was the diagnosis of subacute combined degeneration (SCD) of the spinal cord and the real possibility that G may have irreversible damage to his spinal cord. To our knowledge, this is the first reported case of a patient with SCD of the spinal cord due to ARFID...
December 2015: International Journal of Eating Disorders
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