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 journalArticleAcademicpeer-review

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 languageEnglish
Pages (from-to)773-776
JournalJournal of Child Neurology
Volume26
Issue number6
DOIs
Publication statusPublished - 2011

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