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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between
Anna Tylki-Szymanska1, Elzbieta Jurkiewicz2, Ekaterina Y Zakharova3
1Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Abstract:
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is a rare disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA synthetase, DARS2. Clinical features include childhood or adolescent onset, slowly progressive ataxia, spasticity, and dorsal column dysfunction with or without mild cognitive decline. Magnetic resonance (MR) images show a characteristic leukoencephalopathy with multiple long tract involvement. MR spectroscopy shows elevated levels of lactate. We present strikingly different clinical courses and discrepant MR images findings for a pair of brothers. It cannot be excluded that in the cases presented, the different clinical outcome is related to a varicella infection in infancy in the younger brother.
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