Document Detail


Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.
MedLine Citation:
PMID:  21277128     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Leukoencephalopathy 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.
Authors:
Hanna Mierzewska; Marjo S van der Knaap; Gert C Scheper; Monika Bekiesinska-Figatowska; Elzbieta Szczepanik; Elzbieta Jurkiewicz
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-1-27
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  -     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-1-31     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Affiliation:
Department of Child Neurology, Institute of Mother and Child, Warsaw, Poland.
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