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Brain & development · Oct 2011
Case ReportsLeukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.
- Hanna Mierzewska, Marjo S van der Knaap, Gert C Scheper, Monika Bekiesinska-Figatowska, Elzbieta Szczepanik, and Elzbieta Jurkiewicz.
- Department of Child Neurology, Institute of Mother and Child, Warsaw, Poland. m.figatowska@mp.pl
- Brain Dev. 2011 Oct 1;33(9):713-7.
AbstractLeukoencephalopathy with brain stem and spinal cord involvement and elevated white matter lactate (LBSL) is a very rare autosomal recessive mitochondrial disorder. Clinically patients have slowly progressive ataxia, pyramidal syndrome and dorsal column dysfunction. The disease is defined on the basis of characteristic abnormalities observed on magnetic resonance imaging such as inhomogeneous, spotty involvement of the cerebral white matter, selective involvement of brain stem and spinal cord tracts as well as lactate elevation in the affected white matter on spectroscopy. We present the first identified Polish patient suffering from LBSL confirmed molecularly.Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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