Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation: High Outcome Variation between Two Siblings

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.

Keywords

leukoencephalopathy - spinal cord - mitochondrial

• References

• 1 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 (2) 252-258
• 2 Steenweg ME, van Berge L, van Berkel CG , et al. Early-onset LBSL: how severe does it get?. Neuropediatrics 2012; 43 (6) 332-338
• 3 Mikhaĭlova SV, Zakharova EIu, Banin AV, Demushkina AA, Petrukhin AS. [Clinical and molecular genetic diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation in children]. Zh Nevrol Psikhiatr Im S S Korsakova 2009; 109 (9) 16-22
• 4 Finsterer J, Zarrouk Mahjoub S. Epilepsy in mitochondrial disorders. Seizure 2012; 21 (5) 316-321
• 5 Scheper GC, van der Klok T, van Andel RJ , et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007; 39 (4) 534-539
• 6 Labauge P, Dorboz I, Eymard-Pierre E, Dereeper O, Boespflug-Tanguy O. Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations. J Neurol 2011; 258 (2) 335-337
• 7 Jian-Ren L. Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome. Neurol India 2005; 53 (3) 323-325