TY - JOUR
T1 - Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient
AU - Mierzewska, H.
AU - van der Knaap, M.S.
AU - Scheper, G.C.
AU - Bekiesinska-Figatowska, M.
AU - Szczepanik, E.
AU - Jurkiewicz, E.
PY - 2011
Y1 - 2011
N2 - 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. © 2010 The Japanese Society of Child Neurology.
AB - 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. © 2010 The Japanese Society of Child Neurology.
U2 - https://doi.org/10.1016/j.braindev.2010.12.005
DO - https://doi.org/10.1016/j.braindev.2010.12.005
M3 - Article
C2 - 21277128
SN - 0387-7604
VL - 33
SP - 713
EP - 717
JO - Brain and Development
JF - Brain and Development
IS - 9
ER -