Leukodystrophies with high lactate
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Leukodystrophies with high lactate. This is an infantile onset mitochondrial encephalopathy. Fully referenced neurology checklist.
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
- This is an infantile onset mitochondrial encephalopathy
- It is caused by mutations in the EARS2 gene
- There are mild and severe phenotypes
- Magnetic resonance imaging (MRI) brain shows white matter abnormalities
- Magnetic resonance spectroscopy (MRS) shows increased lactate
Leukoencephalopathy with brainstem and spinal cord involvement and high lactate
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References
- Steenweg ME, Ghezzi D, Haack T, et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 2012; 135:1387-1394.
- van der Knaap MS, van der Voorn P, Barkhof F, et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003; 53:252-258.
- Steenweg ME, Pouwels PJ, Wolf NI, van Wieringen WN, Barkhof F, van der Knaap MS. Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. Brain 2011; 134:3333-3341.
