A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

S Parikh, G Bernard, RJ Leventer… - Molecular genetics and …, 2015 - Elsevier
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in
white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR)
imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs,
and in combination with specific clinical features, such as Addison's disease in
Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often
resolve a case with a minimum of testing. The diagnostic odyssey for the majority LD and …