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Journal articles on the topic 'Leighův syndrom'

Author: Grafiati

Published: 4 June 2021

Last updated: 13 February 2022

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1

Leigh, P. N., S. Al-Sarraj, and S. DiMauro. "Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome)." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 4 (2015): 363–65. http://dx.doi.org/10.1136/jnnp-2012-304601.

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2

Hassan, Qays A. "Leigh Syndrome: Report of a Rare Case with Late Onset Presentation." AL-Kindy College Medical Journal 14, no. 1 (2018): 87–89. http://dx.doi.org/10.47723/kcmj.v14i1.25.

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Leigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis. Rarely, it occurs in juveniles and adults. The diagnosis is difficult and still remains to challenge the clinicians on the basis of history; hence the role of imaging is very essential. It is the neuroimaging, chiefly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Late-onset varieties are rare and only few cases were rep

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3

Shrestha, Merina, Luna Bajracharya, and Sudha Basnet. "Leigh Syndrome in an Adolescent Girl: A Case Report." Journal of Institute of Medicine Nepal 42, no. 2 (2020): 91–93. http://dx.doi.org/10.3126/jiom.v42i2.37547.

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Leigh syndrome (LS) is a disorder of infancy and rarely late childhood. It presents with regression of mental and motor skills. Here, we present LS in an adolescent girl who presented with generalized dystonia and cognitive decline. Her infective, metabolic, endocrinal and autoimmune work up was normal. The neuroimaging showed progressive symmetric involvement of basal ganglia with focal intensity over bilateral lentiform nucleus and thalamic region. The cerebrospinal fluid (CSF) lactate level was elevated. Genetic test could not be performed; however the history of neuro-regression with extra

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4

Edwards, Leon S., Gabor M. Halmagyi, Michael H. Barnett, Christopher A. Blair, and Matthew C. Kiernan. "091 Cerebellar oedema in fulminant adult leigh syndrome." Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (2019): A29.2—A29. http://dx.doi.org/10.1136/jnnp-2019-anzan.79.

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IntroductionWe report a case of adult Leigh syndrome resulting in rapidly fatal cerebellar oedema.CaseA 19-year-old female presented with a five-week history of hyperventilation, generalised weakness, dysarthria and bilateral ptosis. Brain Magnetic resonance imaging (MRI) findings and the presence of a mitochondrial mutation (NC_012920.1(MT-ATP6):m.9176T>C) in blood and urine with approximately 97% heteroplasmy, confirmed a diagnosis of Leigh syndrome.Two-days after a normal lumbar puncture, opening pressure 8cm water, her conscious level rapidly declined. CT revealed marked cerebellar oede

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5

Mannan, A. A. S. R., M. C. Sharma, P. Shrivastava, et al. "Leigh’s syndrome." Indian Journal of Pediatrics 71, no. 11 (2004): 1029–33. http://dx.doi.org/10.1007/bf02828121.

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6

Gonçalves, Erik Tavares, Camila Caroline da Silva, Júlia Cheyenne de Souza Silva, Thalia Gabriela Maria da Silva, and Tatiana Acioli Lins. "Sindrome de Leigh e o papel da enfermagem/Leigh's syndrome and the role of nursing." Brazilian Journal of Health Review 3, no. 6 (2020): —————. http://dx.doi.org/10.34119/bjhrv3n6-227.

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7

Gonçalves, Erik Tavares, Camila Caroline da Silva, Júlia Cheyenne de Souza Silva, Thalia Gabriela Maria da Silva, and Tatiana Acioli Lins. "Sindrome de Leigh e o papel da enfermagem/Leigh's syndrome and the role of nursing." Brazilian Journal of Health Review 3, no. 6 (2020): —————. http://dx.doi.org/10.34119/bjhrv3n6-227.

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8

Crawford, Doreen, and Annette Dearmun. "Leigh syndrome." Nursing Children and Young People 29, no. 7 (2017): 18. http://dx.doi.org/10.7748/ncyp.29.7.18.s20.

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9

Lake, Nicole J., Matthew J. Bird, Pirjo Isohanni, and Anders Paetau. "Leigh Syndrome." Journal of Neuropathology & Experimental Neurology 74, no. 6 (2015): 482–92. http://dx.doi.org/10.1097/nen.0000000000000195.

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10

van Erven, P. M. M., F. J. M. Gabreëls, W. Ruitenbeek, et al. "Leigh syndrome." Clinical Neurology and Neurosurgery 87, no. 3 (1985): 239. http://dx.doi.org/10.1016/0303-8467(85)90047-2.

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11

Kesman, Andrey, Raúl Cordoba, and Zenón M. Sfaello. "Leigh syndrome." Pediatric Neurology 11, no. 2 (1994): 179. http://dx.doi.org/10.1016/0887-8994(94)90506-1.

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12

Fedakar, Atiye, and Belma Haliloglu. "Leigh's Syndrome Presenting with Encephalopathy." Tuberculin Skin Test in Children 10, no. 2 (2013): 94–97. http://dx.doi.org/10.5222/j.child.2010.094.

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13

Shear, Torin, and Joseph D. Tobias. "Anesthetic implications of Leigh's syndrome." Pediatric Anesthesia 14, no. 9 (2004): 792–97. http://dx.doi.org/10.1111/j.1460-9592.2004.01289.x.

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14

Danis, Daniel, Katarina Brennerova, Martina Skopkova, et al. "Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients." Endocrine Regulations 52, no. 2 (2018): 110–18. http://dx.doi.org/10.2478/enr-2018-0013.

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AbstractObjectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings. At molecular level, deficiency of respiratory complexes and/or pyruvate dehydrogenase complex is usually observed. Nuclear gene SURF1 encodes an assembly factor for cytochrome c-oxidase complex of the respiratory chain and autosomal recessive mutations in SURF1 are one of the most frequent causes of cytochrome c-oxidase-related Leigh sy

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15

Sofou, Kalliopi, Irenaeus F. M. de Coo, Elsebet Ostergaard, et al. "Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients." Journal of Medical Genetics 55, no. 1 (2017): 21–27. http://dx.doi.org/10.1136/jmedgenet-2017-104891.

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BackgroundLeigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype correlations in Leigh syndrome are not fully explored.ObjectiveWe aimed to identify phenotype-genotype correlations in Leigh syndrome in a large cohort of systematically evaluated patients.MethodsWe studied 96 patients with genetically confirmed Leigh syndrome diagnosed and followed in eight European centres specialising in mitochondrial diseases.ResultsWe found that ataxia, ophthalmoplegia and cardiomyop

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16

Yadav, Archana Shrestha, Mahbub Mutanabbi, Gopen Kumar Kundu, and CA Kawser. "Leigh Syndrome: A Rare Mitrochondrial Disorder." Bangladesh Journal of Child Health 41, no. 3 (2018): 189–92. http://dx.doi.org/10.3329/bjch.v41i3.36955.

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Leigh syndrome is a rare inherited neurometabolic subacute necrotizing encephalopathy mostly involving brainstem and basal ganglia, seen in the early childhood. It is characterized by progressive loss of mental and motor abilities associated with abnormal muscle tone, weakness, visual loss and respiratory failure. There is no effective treatment for this condition, as such the prognosis of this condition is very bad with death occurring within the first few years of life most commonly due to respiratory failure. Here we present a rare case of Leigh syndrome seen in a 3 and half years male Bang

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17

Tsuji, Masahiro, Shigekazu Kuroki, Haruko Maeda, et al. "Leigh syndrome associated with West syndrome." Brain and Development 25, no. 4 (2003): 245–50. http://dx.doi.org/10.1016/s0387-7604(02)00220-6.

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18

Millichap, J. Gordon. "Leigh’s Syndrome with Two Mitochondrial Defects." Pediatric Neurology Briefs 6, no. 2 (1992): 11. http://dx.doi.org/10.15844/pedneurbriefs-6-2-5.

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19

Kaga, Makiko, Haruko Naitoh, and Kenji Nihei. "Auditory Brainstem Response in Leigh's Syndrome." Pediatrics International 29, no. 2 (1987): 254–60. http://dx.doi.org/10.1111/j.1442-200x.1987.tb00041.x.

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20

Sakuta, Ryoichi, Yu-Ichi Goto, Ikuya Nonaka, et al. "Mitochondrial DNA mutation and Leigh's syndrome." Annals of Neurology 32, no. 4 (1992): 597–98. http://dx.doi.org/10.1002/ana.410320428.

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21

Pandit, Lekha, Gayatri Narayanappa, Lathika Shetty, and Sree Krishna. "Adult onset Leigh syndrome." Annals of Indian Academy of Neurology 10, no. 1 (2007): 55. http://dx.doi.org/10.4103/0972-2327.31488.

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22

Ciafaloni, Emma, Filippo M. Santorelli, Sara Shanske, et al. "Maternally inherited Leigh syndrome." Journal of Pediatrics 122, no. 3 (1993): 419–22. http://dx.doi.org/10.1016/s0022-3476(05)83431-6.

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23

Da-Rè, Caterina, Sophia von Stockum, Alberto Biscontin, et al. "Leigh Syndrome inDrosophila melanogaster." Journal of Biological Chemistry 289, no. 42 (2014): 29235–46. http://dx.doi.org/10.1074/jbc.m114.602938.

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24

Sperl, Wolfgang, and Willy Renier. "Definition of Leigh syndrome." Journal of Pediatrics 114, no. 2 (1989): 340. http://dx.doi.org/10.1016/s0022-3476(89)80821-2.

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25

Finsterer, Josef, and Sinda Zarrouk-Mahjoub. "Psychosis in Leigh syndrome." Asian Journal of Psychiatry 41 (March 2019): 76–77. http://dx.doi.org/10.1016/j.ajp.2017.04.011.

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26

Wang, Mei, Ya-Ping Huang, Han Wu, et al. "Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice." PeerJ 5 (May 18, 2017): e3339. http://dx.doi.org/10.7717/peerj.3339.

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Background The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans. To investigate the disease phenotypes and molecular mechanisms of Leigh syndrome, the Ndufs4 knockout (KO) mouse has been widely used as a novel animal model. Because the homozygotes cannot survive beyond child-bearing age, whether Ndufs4 and mitochondrial complex I influence early embryonic development remains unknown. In our study, we attempted to investigate embryonic development in Ndufs

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27

Krawczyk, Bożena, Karolina Jurasz, Kornelia Skoczylas, and Monika Kadłubowska. "Homecare of a child suffering from Leig´h syndrome – a case study." Pielegniarstwo XXI wieku / Nursing in the 21st Century 17, no. 4 (2018): 53–56. http://dx.doi.org/10.2478/pielxxiw-2018-0031.

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AbstractIntroduction. Leigh syndrome, also called subacute necrotizing encephalomyelopathy, belongs to a group of ultra-rare neurodegenerative mitochondrial diseases. It is most often caused by various genetic enzyme deficiencies. An infant with the syndrome is in need of constant care by their parents who have been appropriately trained and prepared for homecare.Aim. The aim of the study was to present issues connected with the home care of a child with Leigh syndrome and to propose a new model of a home care based on a chosen case study.Material and methods. The research employs the case stu

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28

Treiber-Held, S., E. Wilichowski, B. P. Ernst, P. Seeman, H. H. Christen, and F. Hanefeld. "Familiäre dystone Bewegungsstörung bei Leigh-Syndrom." Aktuelle Neurologie 22, no. 01 (1995): 17–23. http://dx.doi.org/10.1055/s-2007-1017882.

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29

Kundu, Gopen Kumar, Amina Akhter, Shaheen Akhter, and Md Mizanur Rhaman. "Leigh syndrome: A rare mitochondrial disorder." Bangabandhu Sheikh Mujib Medical University Journal 9, no. 2 (2016): 126. http://dx.doi.org/10.3329/bsmmuj.v9i2.28889.

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<p>Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted. Magnetic resonance imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the appropriate diagnosis. Here, we report a case of progressive neurologic disorders presenting with motor and intellectual regression which on MRI was diagnosed as Leigh syndrome.</p>

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30

Finsterer, Josef. "Leigh and Leigh-Like Syndrome in Children and Adults." Pediatric Neurology 39, no. 4 (2008): 223–35. http://dx.doi.org/10.1016/j.pediatrneurol.2008.07.013.

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31

Finsterer, Josef, Carla A. Scorza, and Fulvio A. Scorza. "PTCD3 mutations cause Leigh-like rather than Leigh syndrome." neurogenetics 20, no. 1 (2019): 53–54. http://dx.doi.org/10.1007/s10048-019-00566-5.

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32

Gorodetsky, C., CF Morel, and I. Tein. "P.133 Expanding the phenotype of TRNT1 mutations to include Leigh syndrome." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (2018): S51. http://dx.doi.org/10.1017/cjn.2018.235.

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Background: Children with biallelic mutations in TRNT1 have multi-organ involvement with congenital sideroblastic anemia, -B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) as well as seizures, ataxia and sensorineural hearing loss. The TRNT1 gene encodes the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs accounting for phenotypic pleitropy. Neurodegenerative Leigh syndrome has not been previously reported. Methods:Case summary: A Portuguese boy presented with global developmental delay, 2 episodes of infantile Leigh encephalop

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33

Millichap, J. Gordon. "Leigh Syndrome and Cytochrome Oxidase." Pediatric Neurology Briefs 1, no. 6 (1987): 43. http://dx.doi.org/10.15844/pedneurbriefs-1-6-6.

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34

Kwon, Jin Sook, Choong Gon Choi, Tae Sung Ko, Chong Hyun Yoon, and Dong Eun Kim. "Leigh Syndrome: Serial MRI Findings." Journal of the Korean Radiological Society 38, no. 3 (1998): 539. http://dx.doi.org/10.3348/jkrs.1998.38.3.539.

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35

McKelvie, Penelope, Bernard Infeld, Rosetta Marotta, Judy Chin, David Thorburn, and Steven Collins. "Late-adult onset Leigh syndrome." Journal of Clinical Neuroscience 19, no. 2 (2012): 195–202. http://dx.doi.org/10.1016/j.jocn.2011.09.009.

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36

Finsterer, Josef, and Sinda Zarrouk-Mahjoub. "Ophthalmologic involvement in Leigh syndrome." Acta Ophthalmologica 95, no. 1 (2016): e75-e76. http://dx.doi.org/10.1111/aos.13105.

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37

Andersson Grönlund, Marita, Susann Andersson, Rebecka Åkebrand, et al. "Ophthalmologic involvement in Leigh syndrome." Acta Ophthalmologica 95, no. 1 (2016): e76-e76. http://dx.doi.org/10.1111/aos.13124.

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38

Kim, Kyo Ryung, Suk Ho Byeon, Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, and Heung Dong Kim. "Ocular manifestations in Leigh syndrome." Korean Journal of Pediatrics 53, no. 2 (2010): 163. http://dx.doi.org/10.3345/kjp.2010.53.2.163.

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39

Vilarinho, L., C. Maia, T. Coelho, P. Coutinho, and F. M. Santorelli. "Heterogeneous presentation in Leigh syndrome." Journal of Inherited Metabolic Disease 20, no. 5 (1997): 704–5. http://dx.doi.org/10.1023/a:1005330611147.

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40

Sintini, M., E. Della Giustina, and L. Mavilla. "MRI Patterns of Leigh Syndrome." Rivista di Neuroradiologia 12, no. 2_suppl (1999): 101–4. http://dx.doi.org/10.1177/19714009990120s227.

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41

Ventura, Francesco, Gabriele Rocca, Raffaella Gentile, and Francesco De Stefano. "Sudden Death in Leigh Syndrome." American Journal of Forensic Medicine and Pathology 33, no. 3 (2012): 259–61. http://dx.doi.org/10.1097/paf.0b013e31824e5be0.

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42

Chi, Ching-Shiang, Suk-Chun Mak, and Wen-Jye Shian. "Leigh syndrome with progressive ventriculomegaly." Pediatric Neurology 10, no. 3 (1994): 244–46. http://dx.doi.org/10.1016/0887-8994(94)90032-9.

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43

Dimauro, Salvatore, and Darryl C. de Vivo. "Genetic heterogeneity in leigh syndrome." Annals of Neurology 40, no. 1 (1996): 5–7. http://dx.doi.org/10.1002/ana.410400104.

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44

Han, Velda Xinying, Teresa S. Tan, Furene S. Wang, and Stacey Kiat-Hong Tay. "Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French–Canadian Type Outside of Québec." Child Neurology Open 4 (January 1, 2017): 2329048X1773763. http://dx.doi.org/10.1177/2329048x17737638.

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Background: Leigh syndrome, French–Canadian type is unique to patients from a genetic isolate in the Saguenay–Lac-Saint-Jean region of Québec. It has also been recently described in 10 patients with LRPPRC mutation outside of Québec. It is an autosomal recessive genetic disorder with fatal metabolic crisis and severe neurological morbidity in infancy caused by LRPPRC mutation. Methods and Results: The authors report a boy with a novel LRPPRC compound heterozygous missense mutations c.3130C>T, c.3430C>T, and c.4078G>A found on whole-exome sequencing which correlated with isolated cytoc

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45

Khailany, Rozhgar A., Naser Gilani, Mehmet Ozaslan, et al. "Association of a point mutation (m.9176T>G) of the MT-ATP6 gene with Leigh syndrome: A case report." Biomedical Research and Therapy 7, no. 5 (2020): 3739–43. http://dx.doi.org/10.15419/bmrat.v7i5.601.

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Leigh Syndrome (LS) is an uncommon progressive neurodegenerative mitochondrial disorder. The condition is characterized by progressive mental and developmental disabilities (psychomotor regression) and commonly brings about death within a few years of diagnosis, more often due to respiratory failure. In a small number of patients the disorder does not manifest until adulthood. The principal indications of Leigh syndrome found in early stages typically are diarrhea, vomiting, and difficulty swallowing (dysphagia), which disturbs eating. These problems usually result in powerlessness to develop

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46

West, Stephanie K., Lesley Connors, Timothy C. S. Cox, and Timothy P. Coker. "Leigh’s Disease Associated with a Dorsal Midbrain Syndrome." Journal of Pediatric Ophthalmology & Strabismus 46, no. 5 (2009): 304–5. http://dx.doi.org/10.3928/01913913-20090903-09.

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47

Lera, Gabriel, Kailash Bhatia, and C. David Marsden. "Dystonia as the major manifestation of Leigh's syndrome." Movement Disorders 9, no. 6 (1994): 642–49. http://dx.doi.org/10.1002/mds.870090610.

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48

Shenkman, Ze’ev, Igor Krichevski, Orly N. Elpeleg, Adina Joseph, and Avishag Kadari. "Anaesthetic management of a patient with Leigh’s syndrome." Canadian Journal of Anaesthesia 44, no. 10 (1997): 1091–95. http://dx.doi.org/10.1007/bf03019232.

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49

Alfadhel, Majid. "Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review." Journal of Central Nervous System Disease 9 (January 1, 2017): 117957351773752. http://dx.doi.org/10.1177/1179573517737521.

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Solute carrier family 19 (thiamine transporter), member 3 ( SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. In addition, we report a novel mutation that was not reported previously. Finally, we review the literature regarding early infantile Leigh-like SLC19A3 gene defects

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50

Chen, Kuan-Chung, Wen-Yuan Lee, Hsin-Yi Chen, and Calvin Yu-Chian Chen. "In SilicoInvestigation of Potential mTOR Inhibitors from Traditional Chinese Medicine for Treatment of Leigh Syndrome." BioMed Research International 2014 (2014): 1–9. http://dx.doi.org/10.1155/2014/139492.

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A recent research demonstrates that the inhibition of mammalian target of rapamycin (mTOR) improves survival and health for patients with Leigh syndrome. mTOR proteins can be treated as drug target proteins against Leigh syndrome and other mitochondrial disorders. In this study, we aim to identify potent TCM compounds from the TCM Database@Taiwan as lead compounds of mTOR inhibitors. PONDR-Fit protocol was employed to predict the disordered disposition in mTOR protein before virtual screening. After virtual screening, the MD simulation was employed to validate the stability of interactions bet

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