Leukodystrophies with high lactate
Evidence-based neurology checklist on leukodystrophies with high lactate: 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…
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
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.
