Résumé
Diagnosis of leukodystrophies in adults is difficult.
Diagnosis requires a collaborative approach including clinical, neuroradiological, biochemical, and genetic analyses. Less than thirty percent of adult-onset leukodystrophies have a precise diagnosis.
Improved neuroradiological knowledge is making it possible to determine MRI (magnetic resonance imaging) phenotypes that point towards specific causes and specific diagnoses.
The cavitary leukodystrophies include childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM) syndrome and megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Damage to the posterior spinal cord suggests leukoencephalopathy with damage to the brainstem and cord morrow and is accompanied by elevated lactate (LBSL).