Table 1.
DWI MR patterns that can help with the diagnosis. CCi: Corpus callosum involvement, CSTi: cortico-spinal tract involvement, CSi: involvement of the centra semiovalia
| Disease | Age | CCI | CSTi | CSi | IWMi | Neuroradiologic features | Other features | Evolution |
|---|---|---|---|---|---|---|---|---|
| CMT X-linked | Young adult | ++ | - | ++ | + | Moose-horn appearance | Stroke-like onset | Reversible |
| MSUD | Newborn | - | ++ | ++ | ++ | Already myelinated areas | Severe metabolic decompensation | Variable recovery |
| MD | Infant | - | - | ++ | - | Oval/drop-shaped lesions | Severe metabolic decompensation | Persistent T2 lesions |
| GA-1 | Child/adult | ++ | - | ++ | -+ | Strip-like appearance of corpus callosum | Also in asymptomatic patients | Persistent on T2 and DWI |
| PKU | Child/adult | + | - | ++ | -+ | Prominent parieto-occipital involvement | Also in asymptomatic patients | Persistent on T2 and DWI |
| WI | Elderly | - | - | ++ | - | Chain-like appearance | Ipsilateral severe carotid stenosis | Persistent T2 lesions |
| GCA | Adult/elderly | -+ | -+ | ++ | - | Extensive bilateral involvement of centrum semiovale | Evocative clinical history | Late necrotic evolution |
| Extrapontine myelinolysis | Adult/elderly | + | -+ | + | ++ | Natrium serum level abnormalities | Variable recovery | |
| MTX | Child | - | - | ++ | - | Posterior part of centrum semiovale | Clinical history of MTX administration | Reversible |
| Inhalation of heroin vapour | Young adult | -+ | + | ++ | + | Extensive bilateral involvement of centrum semiovale | Clinical history of drug abuse | Persistent T2 lesions |
| Diffuse axonal injury | Any | ++ | -+ | -+ | -+ | Splenium and undersurface of corpus callosum | Clinical history of head trauma | Persistent T2 lesions |
| Reversible lesions of the splenium | Any | ++ | - | + | - | Splenium | Miscellaneous conditions | Reversible |