Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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October 19, 2015
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL)
- Background: LBSL is an autosomal recessive disorder caused by mutation in the DARS2 gene (mitochondrial aspartyl tRNA synthase).
- Clinical Presentation: During childhood or adolescence, patients present with slowly progressive spasticity, cerebellar ataxia, and abnormal vibration/proprioception. Cognition is only mildly affected. Reduced consciousness, neurologic deterioration, and fever may be trigged by minor head trauma.
- Key Diagnostic Features: Diagnosis is made by characteristic clinical presentation and MRI abnormalities,* and confirmed by genetic testing. MRS and CSF may show increased lactate, but this is not mandatory for diagnosis. [* See Appendix slide for more information]
- DDx: Fulfillment of the MRI diagnostic criteria is essentially pathognomonic for LBSL
- Treatment: There is currently no treatment. Management is based on symptom control and physical rehabilitation.
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