Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients.
A novel leukoencephalopathy was recently identified based on magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy ((1)H-MRS) findings. Leukoencephalopathy with brainstem and spinal cord involvement and high lactate (LBSL) is an autosomal recessive disorder characterized by early onset of symptoms and slowly progressive cerebellar, pyramidal and spinal cord dorsal column dysfunction. MRI and (1)H-MRS typically show abnormalities within cerebral and cerebellar white matter, a characteristic involvement of brainstem and spinal cord tracts and elevated lactate in the abnormal white matter. We present three cases with characteristic clinical and neuroimaging findings of this disorder. Some additional unique findings of our patients are discussed, like distal motor neuropathy and elevated creatine kinase in the serum.
Távora
Daniel Gurgel Fernandes
DG
Department of Radiology, The Sarah Network of Hospitals for Rehabilitation, Fortaleza CE, Brazil. danielgurgel@sarah.br
Nakayama
Mauro
M
Gama
Rômulo Lopes
RL
Alvim
Thereza Cristina de Lara
TC
Portugal
Dalton
D
Comerlato
Enio Alberto
EA
D000293:Adolescent; D001933:Brain Stem / Q000737:chemistry / Q000473:pathology*; D006801:Humans; D019344:Lactic Acid / Q000032:analysis*; D007968:Leukoencephalopathy, Progressive Multifocal / Q000378:metabolism / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D013116:Spinal Cord / Q000737:chemistry / Q000473:pathology*
D019344:Lactic Acid