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Neuropediatrics 2014; 45(03): 188-191
DOI: 10.1055/s-0033-1364105
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

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

Anna Tylki-Szymanska
1   Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland
,
Elzbieta Jurkiewicz
2   Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland
,
Ekaterina Y. Zakharova
3   National Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia
,
Barbara Bobek-Billewicz
4   Center of Oncology Institute M. Curie-Skłodowska, Gliwice, Poland
› Author Affiliations
Further Information

Publication History

03 August 2013

28 October 2013

Publication Date:
09 January 2014 (online)

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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
 

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