LBSL (leukoencephalopathy with brain stem and spinal cord involvement and high lactate) without sparing of the u-fibers and globi pallidi: A case report

Paolo Galluzzi, Michele Sacchini, Gabriella Bartalini, Lucia Monti, Alfonso Cerase, Eleonora Lamantea, Federica Invernizzi, Massimo Zeviani, Paolo Balestri, Carlo Venturi

Research output: Contribution to journalArticle

Abstract

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate (LBSL) is a recently identified leukoencephalopathy, first described by Van der Knaap in 2003. To date 24 cases have been described. Distinctive features were as follows. First, brain MRI showed white matter abnormalities and involvement of brain stem structures. Second, sparing of the u-fibers was an invariant, distinctive feature of the syndrome. Third, whenever evaluated, spinal cord was always involved. Fourth, brain [ 1H]-MR spectroscopy failed to show a lactate peak in all cases. In our little child, the diagnosis was confirmed by genetic analysis but unlike previous report both the u-fibers and globus pallidus were involved; spectroscopic data were more consistent with hypomyelination than demyelination. Our findings add to the phenotype variability of this novel disease.

Original languageEnglish
JournalEuropean Journal of Radiology Extra
Volume79
Issue number2
DOIs
Publication statusPublished - Aug 2011

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Leukoencephalopathies
Globus Pallidus
Brain Stem
Lactic Acid
Spinal Cord
Brain
Demyelinating Diseases
Magnetic Resonance Spectroscopy
Phenotype
White Matter

Keywords

  • Leukoencephalopathy
  • MRI
  • Pediatrics
  • Spectroscopy

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

LBSL (leukoencephalopathy with brain stem and spinal cord involvement and high lactate) without sparing of the u-fibers and globi pallidi : A case report. / Galluzzi, Paolo; Sacchini, Michele; Bartalini, Gabriella; Monti, Lucia; Cerase, Alfonso; Lamantea, Eleonora; Invernizzi, Federica; Zeviani, Massimo; Balestri, Paolo; Venturi, Carlo.

In: European Journal of Radiology Extra, Vol. 79, No. 2, 08.2011.

Research output: Contribution to journalArticle

Galluzzi, Paolo ; Sacchini, Michele ; Bartalini, Gabriella ; Monti, Lucia ; Cerase, Alfonso ; Lamantea, Eleonora ; Invernizzi, Federica ; Zeviani, Massimo ; Balestri, Paolo ; Venturi, Carlo. / LBSL (leukoencephalopathy with brain stem and spinal cord involvement and high lactate) without sparing of the u-fibers and globi pallidi : A case report. In: European Journal of Radiology Extra. 2011 ; Vol. 79, No. 2.
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