A Case with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Elevated Lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings

被引：5
|
作者：
Alibas, H. [1 ,2 ]
Koytak, P. K. [2 ]
Ekinci, G. [3 ]
Uluc, K. [2 ]
机构：
[1] TC Saglik Bakanligi Marmara Univ, Norol ABD, Pendik Egitim & Arastirma Hastanesi, TR-34899 Pendik Istanbul, Turkey
[2] Marmara Univ Hosp, Dept Neurol, Istanbul, Turkey
[3] Marmara Univ Hosp, Dept Radiol, Istanbul, Turkey
来源：
CLINICAL NEURORADIOLOGY | 2014年 / 24卷 / 03期
关键词：
Magnetic Resonance Imaging Finding; Dorsal Column; Axonal Neuropathy; Cerebellar White Matter; Spinal Cord Involvement;
D O I：
10.1007/s00062-013-0250-x
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：297 / 300
页数：4
相关论文
共 50 条
  • [21] LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL) HIGH OUTCOME VARIABILITY AMONG TWO SIBLINGS
    Tylki-Szymanska, A.
    Jurkiewicz, E.
    Zakharova, Y.
    Bobek-Billewicz, B.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S121 - S121
  • [22] Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate: A Genetically Proven Case Without Elevated White Matter Lactate
    Sharma, Suvasini
    Sankhyan, Naveen
    Kumar, Atin
    Scheper, Gert C.
    van der Knaap, Marjo S.
    Gulati, Sheffali
    JOURNAL OF CHILD NEUROLOGY, 2011, 26 (06) : 773 - 776
  • [23] Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Normal Lactate: Case Report
    Colak, Edis
    Eraslan, Cenk
    JOURNAL OF PEDIATRIC RESEARCH, 2016, 3 (04) : 215 - 218
  • [24] Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings
    Uluc, Kayihan
    Baskan, Ozdil
    Yildirim, Kadriye Agan
    Ozsahin, Selda
    Koseoglu, Mesrure
    Isak, Baris
    Scheper, G. C.
    Gunal, Dilek Ince
    van der Knaap, M. S.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2008, 273 (1-2) : 118 - 122
  • [25] Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene
    Lin, Jaime
    Faria, Eliete Chiconelli
    Da Rocha, Antonio Jose
    Masruha, Marcelo Rodrigues
    Pereira Vilanova, Luiz Celso
    Scheper, Gert C.
    Van der Knaap, Marjo S.
    JOURNAL OF CHILD NEUROLOGY, 2010, 25 (11) : 1425 - 1428
  • [26] Utilization of Wearable Technology to Characterize the Natural History of Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
    Smith, Amena
    Miriam, Kaufman
    Murray, Connor
    Keller, Jennifer
    Joseph, Christopher
    Mohapatra, Leena
    Bastian, Amy
    Fatemi, S. Ali
    NEUROLOGY, 2019, 92 (15)
  • [27] Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation
    Huang, Wei-Lin
    Steenari, Maija R.
    Barrick, Rebekah
    Simon, Mariella T.
    Chang, Richard
    Eftekharian, Shaya S.
    Stover, Alexander
    Schwartz, Philip H.
    Latini, Alexandra
    Abdenur, Jose E.
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2024, 38
  • [28] A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
    Shimojima K.
    Higashiguchi T.
    Kishimoto K.
    Miyatake S.
    Miyake N.
    Takanashi J.-I.
    Matsumoto N.
    Yamamoto T.
    Human Genome Variation, 4 (1)
  • [29] Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2
    Yamashita, Sumimasa
    Miyake, Noriko
    Matsumoto, Naomichi
    Osaka, Hitoshi
    Iai, Mizue
    Aida, Noriko
    Tanaka, Yukichi
    BRAIN & DEVELOPMENT, 2013, 35 (04): : 312 - 316
  • [30] A new leukodystrophy with brainstem and spinal cord involvement and high lactate
    van der Knaap, MS
    van der Voorn, P
    Barkhof, F
    Van Coster, R
    Krågeloh-Mann, I
    Feigenbaum, A
    Blaser, S
    Vles, JSH
    Rieckmann, P
    Pouwels, PJW
    ANNALS OF NEUROLOGY, 2003, 53 (02) : 252 - 258
12345