Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate: A Genetically Proven Case Without Elevated White Matter Lactate

S. Sharma; N. Sankhyan; A. Kumar; G.C. Scheper; M.S. van der Knaap; S. Gulati

doi:https://doi.org/10.1177/0883073810390695

Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate: A Genetically Proven Case Without Elevated White Matter Lactate

S. Sharma, N. Sankhyan, A. Kumar, G.C. Scheper, M.S. van der Knaap, S. Gulati

Research output: Contribution to journal › Article › Academic › peer-review

13 Citations (Scopus)

Abstract

A 17-year-old Indian boy with gradually progressive ataxia with onset at 12 years of age is described. Magnetic resonance imaging (MRI) of the brain revealed extensive, inhomogeneous signal abnormalities in the cerebral white matter, with involvement of selected tracts in the brain stem and spinal cord. The imaging findings were characteristic of leukoencephalopathy with brain stem and spinal cord involvement and high lactate, a recently described leukodystrophy. Interestingly, magnetic resonance spectroscopy of the abnormal white matter did not reveal elevated lactate. The patient was compound heterozygous for 2 new mutations in DARS2, genetically confirming the diagnosis

Original language	English
Pages (from-to)	773-776
Journal	Journal of child neurology
Volume	26
Issue number	6
DOIs	https://doi.org/10.1177/0883073810390695
Publication status	Published - 2011

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https://doi.org/10.1177/0883073810390695

Cite this

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title = "Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate: A Genetically Proven Case Without Elevated White Matter Lactate",

abstract = "A 17-year-old Indian boy with gradually progressive ataxia with onset at 12 years of age is described. Magnetic resonance imaging (MRI) of the brain revealed extensive, inhomogeneous signal abnormalities in the cerebral white matter, with involvement of selected tracts in the brain stem and spinal cord. The imaging findings were characteristic of leukoencephalopathy with brain stem and spinal cord involvement and high lactate, a recently described leukodystrophy. Interestingly, magnetic resonance spectroscopy of the abnormal white matter did not reveal elevated lactate. The patient was compound heterozygous for 2 new mutations in DARS2, genetically confirming the diagnosis",

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AU - Sankhyan, N.

AU - Kumar, A.

AU - Scheper, G.C.

AU - van der Knaap, M.S.

AU - Gulati, S.

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N2 - A 17-year-old Indian boy with gradually progressive ataxia with onset at 12 years of age is described. Magnetic resonance imaging (MRI) of the brain revealed extensive, inhomogeneous signal abnormalities in the cerebral white matter, with involvement of selected tracts in the brain stem and spinal cord. The imaging findings were characteristic of leukoencephalopathy with brain stem and spinal cord involvement and high lactate, a recently described leukodystrophy. Interestingly, magnetic resonance spectroscopy of the abnormal white matter did not reveal elevated lactate. The patient was compound heterozygous for 2 new mutations in DARS2, genetically confirming the diagnosis

AB - A 17-year-old Indian boy with gradually progressive ataxia with onset at 12 years of age is described. Magnetic resonance imaging (MRI) of the brain revealed extensive, inhomogeneous signal abnormalities in the cerebral white matter, with involvement of selected tracts in the brain stem and spinal cord. The imaging findings were characteristic of leukoencephalopathy with brain stem and spinal cord involvement and high lactate, a recently described leukodystrophy. Interestingly, magnetic resonance spectroscopy of the abnormal white matter did not reveal elevated lactate. The patient was compound heterozygous for 2 new mutations in DARS2, genetically confirming the diagnosis

U2 - https://doi.org/10.1177/0883073810390695

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